Canonical Allele Identifier: CA590753285

Gene: POMT1

Linked Data

• gnomAD v2: 9-134391246-A-AC
• MyVariant Identifiers: chr9:g.134391247_134391251delinsCGGGAG (hg19) ; chr9:g.131515860_131515864delinsCGGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515859_131515860insC , CM000671.2:g.131515859_131515860insC	GRCh38
NC_000009.11:g.134391246_134391247insC , CM000671.1:g.134391246_134391247insC	GRCh37
NC_000009.10:g.133381067_133381068insC	NCBI36
NG_008896.1:g.17958_17959insC
NG_008896.2:g.17958_17959insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1110+337_1110+338insC	ENSP00000343034.7:n.1110+337_1110+338insC
ENST00000404875.7:n.1812+337_1812+338insC
ENST00000423007.6:c.1329+337_1329+338insC	ENSP00000404119.2:n.1329+337_1329+338insC
ENST00000677295.2:c.*1616+337_*1616+338insC	ENSP00000504346.2:n.*1616+337_*1616+338insC
ENST00000678264.2:c.*1455+337_*1455+338insC	ENSP00000503157.2:n.*1455+337_*1455+338insC
ENST00000682070.1:n.1737+337_1737+338insC
ENST00000682539.1:c.97+337_97+338insC
ENST00000682813.1:n.1537+337_1537+338insC
ENST00000683392.1:n.4019+337_4019+338insC
ENST00000683712.1:n.1677+337_1677+338insC
ENST00000683900.1:n.3172+337_3172+338insC
ENST00000684062.1:n.1938+337_1938+338insC
ENST00000684579.1:n.3118+337_3118+338insC
ENST00000341012.12:c.1110+337_1110+338insC	ENSP00000343034.7:n.1110+337_1110+338insC
ENST00000372220.5:c.141+337_141+338insC	ENSP00000361294.5:n.141+337_141+338insC
ENST00000372228.9:c.1338+337_1338+338insC	ENSP00000361302.3:n.1338+337_1338+338insC
ENST00000402686.8:c.1272+337_1272+338insC MANE Select	ENSP00000385797.4:n.1272+337_1272+338insC
ENST00000676640.1:c.1272+337_1272+338insC	ENSP00000503281.1:n.1272+337_1272+338insC
ENST00000676803.1:c.447+337_447+338insC	ENSP00000503093.1:n.447+337_447+338insC
ENST00000676835.1:c.*487+337_*487+338insC	ENSP00000502911.1:n.*487+337_*487+338insC
ENST00000677029.1:c.816+337_816+338insC	ENSP00000502936.1:n.816+337_816+338insC
ENST00000677099.1:c.*982+337_*982+338insC	ENSP00000504553.1:n.*982+337_*982+338insC
ENST00000677216.1:c.921+337_921+338insC	ENSP00000503772.1:n.921+337_921+338insC
ENST00000677295.1:c.*649+337_*649+338insC	ENSP00000504346.1:n.*649+337_*649+338insC
ENST00000677444.1:c.1078+337_1078+338insC
ENST00000677586.1:n.753+337_753+338insC
ENST00000677626.1:c.921+337_921+338insC	ENSP00000503552.1:n.921+337_921+338insC
ENST00000677677.1:n.1232+337_1232+338insC
ENST00000677853.1:c.*280+337_*280+338insC	ENSP00000503488.1:n.*280+337_*280+338insC
ENST00000677944.1:c.534+337_534+338insC
ENST00000678264.1:c.*649+337_*649+338insC	ENSP00000503157.1:n.*649+337_*649+338insC
ENST00000678303.1:c.1182+337_1182+338insC	ENSP00000503696.1:n.1182+337_1182+338insC
ENST00000678366.1:c.*1521+337_*1521+338insC	ENSP00000504353.1:n.*1521+337_*1521+338insC
ENST00000678546.1:c.*1217+337_*1217+338insC	ENSP00000503062.1:n.*1217+337_*1217+338insC
ENST00000678548.1:c.*1344+337_*1344+338insC	ENSP00000503934.1:n.*1344+337_*1344+338insC
ENST00000678626.1:n.969+337_969+338insC
ENST00000678733.1:c.353+337_353+338insC
ENST00000678739.1:c.*1598+337_*1598+338insC	ENSP00000503806.1:n.*1598+337_*1598+338insC
ENST00000678795.1:n.359+337_359+338insC
ENST00000678833.1:c.*719+337_*719+338insC	ENSP00000503893.1:n.*719+337_*719+338insC
ENST00000678942.1:c.452+337_452+338insC	ENSP00000504690.1:n.452+337_452+338insC
ENST00000679023.1:c.1110+337_1110+338insC	ENSP00000503718.1:n.1110+337_1110+338insC
ENST00000679076.1:c.891+337_891+338insC
ENST00000679111.1:c.1272+337_1272+338insC	ENSP00000504257.1:n.1272+337_1272+338insC
ENST00000679189.1:c.921+337_921+338insC	ENSP00000503356.1:n.921+337_921+338insC
ENST00000341012.11:c.1110+337_1110+338insC	ENSP00000343034.7:n.1110+337_1110+338insC
ENST00000372228.7:c.1338+337_1338+338insC	ENSP00000361302.3:n.1338+337_1338+338insC
ENST00000402686.7:c.1272+337_1272+338insC	ENSP00000385797.3:n.1272+337_1272+338insC
ENST00000404875.6:c.921+337_921+338insC	ENSP00000384531.2:n.921+337_921+338insC
ENST00000423007.5:c.1272+337_1272+338insC	ENSP00000404119.1:n.1272+337_1272+338insC
ENST00000485278.5:n.1827+337_1827+338insC
NM_001077365.1:c.1272+337_1272+338insC	NP_001070833.1:n.1272+337_1272+338insC
NM_001077366.1:c.1110+337_1110+338insC	NP_001070834.1:n.1110+337_1110+338insC
NM_001136113.1:c.1272+337_1272+338insC	NP_001129585.1:n.1272+337_1272+338insC
NM_001136114.1:c.921+337_921+338insC	NP_001129586.1:n.921+337_921+338insC
NM_007171.3:c.1338+337_1338+338insC	NP_009102.3:n.1338+337_1338+338insC
XM_005272156.1:c.1338+337_1338+338insC	XP_005272213.1:n.1338+337_1338+338insC
XM_005272158.1:c.1176+337_1176+338insC	XP_005272215.1:n.1176+337_1176+338insC
XM_005272159.1:c.987+337_987+338insC	XP_005272216.1:n.987+337_987+338insC
XM_005272162.1:c.141+337_141+338insC	XP_005272219.1:n.141+337_141+338insC
XM_006716932.1:c.987+337_987+338insC	XP_006716995.1:n.987+337_987+338insC
XM_011518140.1:c.1191+337_1191+338insC	XP_011516442.1:n.1191+337_1191+338insC
XM_011518141.1:c.1125+337_1125+338insC	XP_011516443.1:n.1125+337_1125+338insC
XM_011518142.1:c.1029+337_1029+338insC	XP_011516444.1:n.1029+337_1029+338insC
XM_011518143.1:c.1023+337_1023+338insC	XP_011516445.1:n.1023+337_1023+338insC
XM_011518144.1:c.1338+337_1338+338insC	XP_011516446.1:n.1338+337_1338+338insC
XM_011518145.1:c.882+337_882+338insC	XP_011516447.1:n.882+337_882+338insC
XM_011518146.1:c.1023+337_1023+338insC	XP_011516448.1:n.1023+337_1023+338insC
XR_929703.1:n.1514+337_1514+338insC
NM_001353193.1:c.1338+337_1338+338insC	NP_001340122.1:n.1338+337_1338+338insC
NM_001353194.1:c.1110+337_1110+338insC	NP_001340123.1:n.1110+337_1110+338insC
NM_001353195.1:c.921+337_921+338insC	NP_001340124.1:n.921+337_921+338insC
NM_001353196.1:c.1182+337_1182+338insC	NP_001340125.1:n.1182+337_1182+338insC
NM_001353197.1:c.1176+337_1176+338insC	NP_001340126.1:n.1176+337_1176+338insC
NM_001353198.1:c.1176+337_1176+338insC	NP_001340127.1:n.1176+337_1176+338insC
NM_001353199.1:c.987+337_987+338insC	NP_001340128.1:n.987+337_987+338insC
NM_001353200.1:c.816+337_816+338insC	NP_001340129.1:n.816+337_816+338insC
NR_148391.1:n.1322+337_1322+338insC
NR_148392.1:n.1540+337_1540+338insC
NR_148393.1:n.1322+337_1322+338insC
NR_148394.1:n.1215+337_1215+338insC
NR_148395.1:n.1474+337_1474+338insC
NR_148396.1:n.1108+337_1108+338insC
NR_148397.1:n.1372+337_1372+338insC
NR_148398.1:n.1327+337_1327+338insC
NR_148399.1:n.1714+337_1714+338insC
NR_148400.1:n.1313+337_1313+338insC
XM_005272162.3:c.141+337_141+338insC	XP_005272219.1:n.141+337_141+338insC
XM_006716932.2:c.987+337_987+338insC	XP_006716995.1:n.987+337_987+338insC
XM_011518140.2:c.1191+337_1191+338insC	XP_011516442.1:n.1191+337_1191+338insC
XM_011518141.2:c.1125+337_1125+338insC	XP_011516443.1:n.1125+337_1125+338insC
XM_011518142.2:c.1029+337_1029+338insC	XP_011516444.1:n.1029+337_1029+338insC
XM_011518143.2:c.1023+337_1023+338insC	XP_011516445.1:n.1023+337_1023+338insC
XM_011518145.2:c.882+337_882+338insC	XP_011516447.1:n.882+337_882+338insC
XM_017014205.2:c.141+337_141+338insC	XP_016869694.1:n.141+337_141+338insC
XM_024447380.1:c.141+337_141+338insC	XP_024303148.1:n.141+337_141+338insC
XM_024447381.1:c.447+337_447+338insC	XP_024303149.1:n.447+337_447+338insC
XM_024447382.1:c.141+337_141+338insC	XP_024303150.1:n.141+337_141+338insC
XR_001746160.2:n.1442+337_1442+338insC
XR_001746162.2:n.1508+337_1508+338insC
XR_001746164.1:n.1225+337_1225+338insC
XR_001746166.2:n.1659+337_1659+338insC
NM_001077365.2:c.1272+337_1272+338insC MANE Select	NP_001070833.1:n.1272+337_1272+338insC
NM_001077366.2:c.1110+337_1110+338insC	NP_001070834.1:n.1110+337_1110+338insC
NM_001136113.2:c.1272+337_1272+338insC	NP_001129585.1:n.1272+337_1272+338insC
NM_001136114.2:c.921+337_921+338insC	NP_001129586.1:n.921+337_921+338insC
NM_001353193.2:c.1338+337_1338+338insC	NP_001340122.2:n.1338+337_1338+338insC
NM_001353194.2:c.1110+337_1110+338insC	NP_001340123.1:n.1110+337_1110+338insC
NM_001353195.2:c.921+337_921+338insC	NP_001340124.1:n.921+337_921+338insC
NM_001353196.2:c.1182+337_1182+338insC	NP_001340125.1:n.1182+337_1182+338insC
NM_001353197.2:c.1176+337_1176+338insC	NP_001340126.2:n.1176+337_1176+338insC
NM_001353198.2:c.1176+337_1176+338insC	NP_001340127.2:n.1176+337_1176+338insC
NM_001353199.2:c.987+337_987+338insC	NP_001340128.2:n.987+337_987+338insC
NM_001353200.2:c.816+337_816+338insC	NP_001340129.1:n.816+337_816+338insC
NM_001374689.1:c.1260+337_1260+338insC	NP_001361618.1:n.1260+337_1260+338insC
NM_001374690.1:c.1272+337_1272+338insC	NP_001361619.1:n.1272+337_1272+338insC
NM_001374691.1:c.921+337_921+338insC	NP_001361620.1:n.921+337_921+338insC
NM_001374692.1:c.921+337_921+338insC	NP_001361621.1:n.921+337_921+338insC
NM_001374693.1:c.921+337_921+338insC	NP_001361622.1:n.921+337_921+338insC
NM_001374695.1:c.882+337_882+338insC	NP_001361624.1:n.882+337_882+338insC
NM_007171.4:c.1338+337_1338+338insC	NP_009102.4:n.1338+337_1338+338insC
NR_148391.2:n.1306+337_1306+338insC
NR_148392.2:n.1524+337_1524+338insC
NR_148393.2:n.1306+337_1306+338insC
NR_148394.2:n.1199+337_1199+338insC
NR_148395.2:n.1458+337_1458+338insC
NR_148396.2:n.1092+337_1092+338insC
NR_148397.2:n.1356+337_1356+338insC
NR_148398.2:n.1311+337_1311+338insC
NR_148399.2:n.1698+337_1698+338insC
NR_148400.2:n.1297+337_1297+338insC