Canonical Allele Identifier: CA590753287

Gene: POMT1

Linked Data

• dbSNP Id: rs1564367331
• gnomAD v2: 9-134391247-G-GGACACTTCCTCACAC
• gnomAD v3: 9-131515860-G-GGACACTTCCTCACAC
• gnomAD v4: 9-131515860-G-GGACACTTCCTCACAC
• MyVariant Identifiers: chr9:g.134391247_134391248insGACACTTCCTCACAC (hg19) ; chr9:g.131515860_131515861insGACACTTCCTCACAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515861_131515862insACACTTCCTCACACG , CM000671.2:g.131515861_131515862insACACTTCCTCACACG	GRCh38
NC_000009.11:g.134391248_134391249insACACTTCCTCACACG , CM000671.1:g.134391248_134391249insACACTTCCTCACACG	GRCh37
NC_000009.10:g.133381069_133381070insACACTTCCTCACACG	NCBI36
NG_008896.1:g.17960_17961insACACTTCCTCACACG
NG_008896.2:g.17960_17961insACACTTCCTCACACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+339_1110+340insACACTTCCTCACACG	ENSP00000343034.7:n.1110+339_1110+340insACACTTCCTCACACG
ENST00000404875.7:n.1812+339_1812+340insACACTTCCTCACACG
ENST00000423007.6:c.1329+339_1329+340insACACTTCCTCACACG	ENSP00000404119.2:n.1329+339_1329+340insACACTTCCTCACACG
ENST00000677295.2:c.*1616+339_*1616+340insACACTTCCTCACACG	ENSP00000504346.2:n.*1616+339_*1616+340insACACTTCCTCACACG
ENST00000678264.2:c.*1455+339_*1455+340insACACTTCCTCACACG	ENSP00000503157.2:n.*1455+339_*1455+340insACACTTCCTCACACG
ENST00000682070.1:n.1737+339_1737+340insACACTTCCTCACACG
ENST00000682539.1:c.97+339_97+340insACACTTCCTCACACG
ENST00000682813.1:n.1537+339_1537+340insACACTTCCTCACACG
ENST00000683392.1:n.4019+339_4019+340insACACTTCCTCACACG
ENST00000683712.1:n.1677+339_1677+340insACACTTCCTCACACG
ENST00000683900.1:n.3172+339_3172+340insACACTTCCTCACACG
ENST00000684062.1:n.1938+339_1938+340insACACTTCCTCACACG
ENST00000684579.1:n.3118+339_3118+340insACACTTCCTCACACG
ENST00000341012.12:c.1110+339_1110+340insACACTTCCTCACACG	ENSP00000343034.7:n.1110+339_1110+340insACACTTCCTCACACG
ENST00000372220.5:c.141+339_141+340insACACTTCCTCACACG	ENSP00000361294.5:n.141+339_141+340insACACTTCCTCACACG
ENST00000372228.9:c.1338+339_1338+340insACACTTCCTCACACG	ENSP00000361302.3:n.1338+339_1338+340insACACTTCCTCACACG
ENST00000402686.8:c.1272+339_1272+340insACACTTCCTCACACG MANE Select	ENSP00000385797.4:n.1272+339_1272+340insACACTTCCTCACACG
ENST00000676640.1:c.1272+339_1272+340insACACTTCCTCACACG	ENSP00000503281.1:n.1272+339_1272+340insACACTTCCTCACACG
ENST00000676803.1:c.447+339_447+340insACACTTCCTCACACG	ENSP00000503093.1:n.447+339_447+340insACACTTCCTCACACG
ENST00000676835.1:c.*487+339_*487+340insACACTTCCTCACACG	ENSP00000502911.1:n.*487+339_*487+340insACACTTCCTCACACG
ENST00000677029.1:c.816+339_816+340insACACTTCCTCACACG	ENSP00000502936.1:n.816+339_816+340insACACTTCCTCACACG
ENST00000677099.1:c.*982+339_*982+340insACACTTCCTCACACG	ENSP00000504553.1:n.*982+339_*982+340insACACTTCCTCACACG
ENST00000677216.1:c.921+339_921+340insACACTTCCTCACACG	ENSP00000503772.1:n.921+339_921+340insACACTTCCTCACACG
ENST00000677295.1:c.*649+339_*649+340insACACTTCCTCACACG	ENSP00000504346.1:n.*649+339_*649+340insACACTTCCTCACACG
ENST00000677444.1:c.1078+339_1078+340insACACTTCCTCACACG
ENST00000677586.1:n.753+339_753+340insACACTTCCTCACACG
ENST00000677626.1:c.921+339_921+340insACACTTCCTCACACG	ENSP00000503552.1:n.921+339_921+340insACACTTCCTCACACG
ENST00000677677.1:n.1232+339_1232+340insACACTTCCTCACACG
ENST00000677853.1:c.*280+339_*280+340insACACTTCCTCACACG	ENSP00000503488.1:n.*280+339_*280+340insACACTTCCTCACACG
ENST00000677944.1:c.534+339_534+340insACACTTCCTCACACG
ENST00000678264.1:c.*649+339_*649+340insACACTTCCTCACACG	ENSP00000503157.1:n.*649+339_*649+340insACACTTCCTCACACG
ENST00000678303.1:c.1182+339_1182+340insACACTTCCTCACACG	ENSP00000503696.1:n.1182+339_1182+340insACACTTCCTCACACG
ENST00000678366.1:c.*1521+339_*1521+340insACACTTCCTCACACG	ENSP00000504353.1:n.*1521+339_*1521+340insACACTTCCTCACACG
ENST00000678546.1:c.*1217+339_*1217+340insACACTTCCTCACACG	ENSP00000503062.1:n.*1217+339_*1217+340insACACTTCCTCACACG
ENST00000678548.1:c.*1344+339_*1344+340insACACTTCCTCACACG	ENSP00000503934.1:n.*1344+339_*1344+340insACACTTCCTCACACG
ENST00000678626.1:n.969+339_969+340insACACTTCCTCACACG
ENST00000678733.1:c.353+339_353+340insACACTTCCTCACACG
ENST00000678739.1:c.*1598+339_*1598+340insACACTTCCTCACACG	ENSP00000503806.1:n.*1598+339_*1598+340insACACTTCCTCACACG
ENST00000678795.1:n.359+339_359+340insACACTTCCTCACACG
ENST00000678833.1:c.*719+339_*719+340insACACTTCCTCACACG	ENSP00000503893.1:n.*719+339_*719+340insACACTTCCTCACACG
ENST00000678942.1:c.452+339_452+340insACACTTCCTCACACG	ENSP00000504690.1:n.452+339_452+340insACACTTCCTCACACG
ENST00000679023.1:c.1110+339_1110+340insACACTTCCTCACACG	ENSP00000503718.1:n.1110+339_1110+340insACACTTCCTCACACG
ENST00000679076.1:c.891+339_891+340insACACTTCCTCACACG
ENST00000679111.1:c.1272+339_1272+340insACACTTCCTCACACG	ENSP00000504257.1:n.1272+339_1272+340insACACTTCCTCACACG
ENST00000679189.1:c.921+339_921+340insACACTTCCTCACACG	ENSP00000503356.1:n.921+339_921+340insACACTTCCTCACACG
ENST00000341012.11:c.1110+339_1110+340insACACTTCCTCACACG	ENSP00000343034.7:n.1110+339_1110+340insACACTTCCTCACACG
ENST00000372228.7:c.1338+339_1338+340insACACTTCCTCACACG	ENSP00000361302.3:n.1338+339_1338+340insACACTTCCTCACACG
ENST00000402686.7:c.1272+339_1272+340insACACTTCCTCACACG	ENSP00000385797.3:n.1272+339_1272+340insACACTTCCTCACACG
ENST00000404875.6:c.921+339_921+340insACACTTCCTCACACG	ENSP00000384531.2:n.921+339_921+340insACACTTCCTCACACG
ENST00000423007.5:c.1272+339_1272+340insACACTTCCTCACACG	ENSP00000404119.1:n.1272+339_1272+340insACACTTCCTCACACG
ENST00000485278.5:n.1827+339_1827+340insACACTTCCTCACACG
NM_001077365.1:c.1272+339_1272+340insACACTTCCTCACACG	NP_001070833.1:n.1272+339_1272+340insACACTTCCTCACACG
NM_001077366.1:c.1110+339_1110+340insACACTTCCTCACACG	NP_001070834.1:n.1110+339_1110+340insACACTTCCTCACACG
NM_001136113.1:c.1272+339_1272+340insACACTTCCTCACACG	NP_001129585.1:n.1272+339_1272+340insACACTTCCTCACACG
NM_001136114.1:c.921+339_921+340insACACTTCCTCACACG	NP_001129586.1:n.921+339_921+340insACACTTCCTCACACG
NM_007171.3:c.1338+339_1338+340insACACTTCCTCACACG	NP_009102.3:n.1338+339_1338+340insACACTTCCTCACACG
XM_005272156.1:c.1338+339_1338+340insACACTTCCTCACACG	XP_005272213.1:n.1338+339_1338+340insACACTTCCTCACACG
XM_005272158.1:c.1176+339_1176+340insACACTTCCTCACACG	XP_005272215.1:n.1176+339_1176+340insACACTTCCTCACACG
XM_005272159.1:c.987+339_987+340insACACTTCCTCACACG	XP_005272216.1:n.987+339_987+340insACACTTCCTCACACG
XM_005272162.1:c.141+339_141+340insACACTTCCTCACACG	XP_005272219.1:n.141+339_141+340insACACTTCCTCACACG
XM_006716932.1:c.987+339_987+340insACACTTCCTCACACG	XP_006716995.1:n.987+339_987+340insACACTTCCTCACACG
XM_011518140.1:c.1191+339_1191+340insACACTTCCTCACACG	XP_011516442.1:n.1191+339_1191+340insACACTTCCTCACACG
XM_011518141.1:c.1125+339_1125+340insACACTTCCTCACACG	XP_011516443.1:n.1125+339_1125+340insACACTTCCTCACACG
XM_011518142.1:c.1029+339_1029+340insACACTTCCTCACACG	XP_011516444.1:n.1029+339_1029+340insACACTTCCTCACACG
XM_011518143.1:c.1023+339_1023+340insACACTTCCTCACACG	XP_011516445.1:n.1023+339_1023+340insACACTTCCTCACACG
XM_011518144.1:c.1338+339_1338+340insACACTTCCTCACACG	XP_011516446.1:n.1338+339_1338+340insACACTTCCTCACACG
XM_011518145.1:c.882+339_882+340insACACTTCCTCACACG	XP_011516447.1:n.882+339_882+340insACACTTCCTCACACG
XM_011518146.1:c.1023+339_1023+340insACACTTCCTCACACG	XP_011516448.1:n.1023+339_1023+340insACACTTCCTCACACG
XR_929703.1:n.1514+339_1514+340insACACTTCCTCACACG
NM_001353193.1:c.1338+339_1338+340insACACTTCCTCACACG	NP_001340122.1:n.1338+339_1338+340insACACTTCCTCACACG
NM_001353194.1:c.1110+339_1110+340insACACTTCCTCACACG	NP_001340123.1:n.1110+339_1110+340insACACTTCCTCACACG
NM_001353195.1:c.921+339_921+340insACACTTCCTCACACG	NP_001340124.1:n.921+339_921+340insACACTTCCTCACACG
NM_001353196.1:c.1182+339_1182+340insACACTTCCTCACACG	NP_001340125.1:n.1182+339_1182+340insACACTTCCTCACACG
NM_001353197.1:c.1176+339_1176+340insACACTTCCTCACACG	NP_001340126.1:n.1176+339_1176+340insACACTTCCTCACACG
NM_001353198.1:c.1176+339_1176+340insACACTTCCTCACACG	NP_001340127.1:n.1176+339_1176+340insACACTTCCTCACACG
NM_001353199.1:c.987+339_987+340insACACTTCCTCACACG	NP_001340128.1:n.987+339_987+340insACACTTCCTCACACG
NM_001353200.1:c.816+339_816+340insACACTTCCTCACACG	NP_001340129.1:n.816+339_816+340insACACTTCCTCACACG
NR_148391.1:n.1322+339_1322+340insACACTTCCTCACACG
NR_148392.1:n.1540+339_1540+340insACACTTCCTCACACG
NR_148393.1:n.1322+339_1322+340insACACTTCCTCACACG
NR_148394.1:n.1215+339_1215+340insACACTTCCTCACACG
NR_148395.1:n.1474+339_1474+340insACACTTCCTCACACG
NR_148396.1:n.1108+339_1108+340insACACTTCCTCACACG
NR_148397.1:n.1372+339_1372+340insACACTTCCTCACACG
NR_148398.1:n.1327+339_1327+340insACACTTCCTCACACG
NR_148399.1:n.1714+339_1714+340insACACTTCCTCACACG
NR_148400.1:n.1313+339_1313+340insACACTTCCTCACACG
XM_005272162.3:c.141+339_141+340insACACTTCCTCACACG	XP_005272219.1:n.141+339_141+340insACACTTCCTCACACG
XM_006716932.2:c.987+339_987+340insACACTTCCTCACACG	XP_006716995.1:n.987+339_987+340insACACTTCCTCACACG
XM_011518140.2:c.1191+339_1191+340insACACTTCCTCACACG	XP_011516442.1:n.1191+339_1191+340insACACTTCCTCACACG
XM_011518141.2:c.1125+339_1125+340insACACTTCCTCACACG	XP_011516443.1:n.1125+339_1125+340insACACTTCCTCACACG
XM_011518142.2:c.1029+339_1029+340insACACTTCCTCACACG	XP_011516444.1:n.1029+339_1029+340insACACTTCCTCACACG
XM_011518143.2:c.1023+339_1023+340insACACTTCCTCACACG	XP_011516445.1:n.1023+339_1023+340insACACTTCCTCACACG
XM_011518145.2:c.882+339_882+340insACACTTCCTCACACG	XP_011516447.1:n.882+339_882+340insACACTTCCTCACACG
XM_017014205.2:c.141+339_141+340insACACTTCCTCACACG	XP_016869694.1:n.141+339_141+340insACACTTCCTCACACG
XM_024447380.1:c.141+339_141+340insACACTTCCTCACACG	XP_024303148.1:n.141+339_141+340insACACTTCCTCACACG
XM_024447381.1:c.447+339_447+340insACACTTCCTCACACG	XP_024303149.1:n.447+339_447+340insACACTTCCTCACACG
XM_024447382.1:c.141+339_141+340insACACTTCCTCACACG	XP_024303150.1:n.141+339_141+340insACACTTCCTCACACG
XR_001746160.2:n.1442+339_1442+340insACACTTCCTCACACG
XR_001746162.2:n.1508+339_1508+340insACACTTCCTCACACG
XR_001746164.1:n.1225+339_1225+340insACACTTCCTCACACG
XR_001746166.2:n.1659+339_1659+340insACACTTCCTCACACG
NM_001077365.2:c.1272+339_1272+340insACACTTCCTCACACG MANE Select	NP_001070833.1:n.1272+339_1272+340insACACTTCCTCACACG
NM_001077366.2:c.1110+339_1110+340insACACTTCCTCACACG	NP_001070834.1:n.1110+339_1110+340insACACTTCCTCACACG
NM_001136113.2:c.1272+339_1272+340insACACTTCCTCACACG	NP_001129585.1:n.1272+339_1272+340insACACTTCCTCACACG
NM_001136114.2:c.921+339_921+340insACACTTCCTCACACG	NP_001129586.1:n.921+339_921+340insACACTTCCTCACACG
NM_001353193.2:c.1338+339_1338+340insACACTTCCTCACACG	NP_001340122.2:n.1338+339_1338+340insACACTTCCTCACACG
NM_001353194.2:c.1110+339_1110+340insACACTTCCTCACACG	NP_001340123.1:n.1110+339_1110+340insACACTTCCTCACACG
NM_001353195.2:c.921+339_921+340insACACTTCCTCACACG	NP_001340124.1:n.921+339_921+340insACACTTCCTCACACG
NM_001353196.2:c.1182+339_1182+340insACACTTCCTCACACG	NP_001340125.1:n.1182+339_1182+340insACACTTCCTCACACG
NM_001353197.2:c.1176+339_1176+340insACACTTCCTCACACG	NP_001340126.2:n.1176+339_1176+340insACACTTCCTCACACG
NM_001353198.2:c.1176+339_1176+340insACACTTCCTCACACG	NP_001340127.2:n.1176+339_1176+340insACACTTCCTCACACG
NM_001353199.2:c.987+339_987+340insACACTTCCTCACACG	NP_001340128.2:n.987+339_987+340insACACTTCCTCACACG
NM_001353200.2:c.816+339_816+340insACACTTCCTCACACG	NP_001340129.1:n.816+339_816+340insACACTTCCTCACACG
NM_001374689.1:c.1260+339_1260+340insACACTTCCTCACACG	NP_001361618.1:n.1260+339_1260+340insACACTTCCTCACACG
NM_001374690.1:c.1272+339_1272+340insACACTTCCTCACACG	NP_001361619.1:n.1272+339_1272+340insACACTTCCTCACACG
NM_001374691.1:c.921+339_921+340insACACTTCCTCACACG	NP_001361620.1:n.921+339_921+340insACACTTCCTCACACG
NM_001374692.1:c.921+339_921+340insACACTTCCTCACACG	NP_001361621.1:n.921+339_921+340insACACTTCCTCACACG
NM_001374693.1:c.921+339_921+340insACACTTCCTCACACG	NP_001361622.1:n.921+339_921+340insACACTTCCTCACACG
NM_001374695.1:c.882+339_882+340insACACTTCCTCACACG	NP_001361624.1:n.882+339_882+340insACACTTCCTCACACG
NM_007171.4:c.1338+339_1338+340insACACTTCCTCACACG	NP_009102.4:n.1338+339_1338+340insACACTTCCTCACACG
NR_148391.2:n.1306+339_1306+340insACACTTCCTCACACG
NR_148392.2:n.1524+339_1524+340insACACTTCCTCACACG
NR_148393.2:n.1306+339_1306+340insACACTTCCTCACACG
NR_148394.2:n.1199+339_1199+340insACACTTCCTCACACG
NR_148395.2:n.1458+339_1458+340insACACTTCCTCACACG
NR_148396.2:n.1092+339_1092+340insACACTTCCTCACACG
NR_148397.2:n.1356+339_1356+340insACACTTCCTCACACG
NR_148398.2:n.1311+339_1311+340insACACTTCCTCACACG
NR_148399.2:n.1698+339_1698+340insACACTTCCTCACACG
NR_148400.2:n.1297+339_1297+340insACACTTCCTCACACG