Canonical Allele Identifier: CA2692220580

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518598-GCCCCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518599_131518604del , CM000671.2:g.131518599_131518604del	GRCh38
NC_000009.11:g.134393986_134393991del , CM000671.1:g.134393986_134393991del	GRCh37
NC_000009.10:g.133383807_133383812del	NCBI36
NG_008896.1:g.20698_20703del
NG_008896.2:g.20698_20703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1203+62_1203+67del	ENSP00000343034.7:n.1203+62_1203+67del
ENST00000404875.7:n.1905+62_1905+67del
ENST00000423007.6:c.1422+62_1422+67del	ENSP00000404119.2:n.1422+62_1422+67del
ENST00000677295.2:c.*1709+62_*1709+67del	ENSP00000504346.2:n.*1709+62_*1709+67del
ENST00000678264.2:c.*1548+62_*1548+67del	ENSP00000503157.2:n.*1548+62_*1548+67del
ENST00000682070.1:n.1830+62_1830+67del
ENST00000682539.1:c.303+62_303+67del
ENST00000682813.1:n.1630+62_1630+67del
ENST00000683110.1:n.93+62_93+67del
ENST00000683392.1:n.4112+62_4112+67del
ENST00000683712.1:n.1770+62_1770+67del
ENST00000683900.1:n.3265+62_3265+67del
ENST00000684062.1:n.2031+62_2031+67del
ENST00000684579.1:n.3211+62_3211+67del
ENST00000684679.1:n.592+62_592+67del
ENST00000341012.12:c.1203+62_1203+67del	ENSP00000343034.7:n.1203+62_1203+67del
ENST00000372220.5:c.234+62_234+67del	ENSP00000361294.5:n.234+62_234+67del
ENST00000372228.9:c.1431+62_1431+67del	ENSP00000361302.3:n.1431+62_1431+67del
ENST00000402686.8:c.1365+62_1365+67del MANE Select	ENSP00000385797.4:n.1365+62_1365+67del
ENST00000676640.1:c.1365+62_1365+67del	ENSP00000503281.1:n.1365+62_1365+67del
ENST00000676803.1:c.540+62_540+67del	ENSP00000503093.1:n.540+62_540+67del
ENST00000676835.1:c.*580+62_*580+67del	ENSP00000502911.1:n.*580+62_*580+67del
ENST00000677029.1:c.909+62_909+67del	ENSP00000502936.1:n.909+62_909+67del
ENST00000677099.1:c.*1075+62_*1075+67del	ENSP00000504553.1:n.*1075+62_*1075+67del
ENST00000677216.1:c.1014+62_1014+67del	ENSP00000503772.1:n.1014+62_1014+67del
ENST00000677221.1:n.390+62_390+67del
ENST00000677295.1:c.*742+62_*742+67del	ENSP00000504346.1:n.*742+62_*742+67del
ENST00000677444.1:c.1171+62_1171+67del
ENST00000677586.1:n.846+62_846+67del
ENST00000677626.1:c.1014+62_1014+67del	ENSP00000503552.1:n.1014+62_1014+67del
ENST00000677677.1:n.1325+62_1325+67del
ENST00000677853.1:c.*373+62_*373+67del	ENSP00000503488.1:n.*373+62_*373+67del
ENST00000677983.1:n.454+62_454+67del
ENST00000678202.1:n.385+62_385+67del
ENST00000678264.1:c.*742+62_*742+67del	ENSP00000503157.1:n.*742+62_*742+67del
ENST00000678303.1:c.1275+62_1275+67del	ENSP00000503696.1:n.1275+62_1275+67del
ENST00000678366.1:c.*1614+62_*1614+67del	ENSP00000504353.1:n.*1614+62_*1614+67del
ENST00000678546.1:c.*1310+62_*1310+67del	ENSP00000503062.1:n.*1310+62_*1310+67del
ENST00000678548.1:c.*1437+62_*1437+67del	ENSP00000503934.1:n.*1437+62_*1437+67del
ENST00000678626.1:n.1062+62_1062+67del
ENST00000678733.1:c.446+62_446+67del
ENST00000678739.1:c.*1691+62_*1691+67del	ENSP00000503806.1:n.*1691+62_*1691+67del
ENST00000678795.1:n.452+62_452+67del
ENST00000678833.1:c.*812+62_*812+67del	ENSP00000503893.1:n.*812+62_*812+67del
ENST00000678942.1:c.545+62_545+67del	ENSP00000504690.1:n.545+62_545+67del
ENST00000679023.1:c.1203+62_1203+67del	ENSP00000503718.1:n.1203+62_1203+67del
ENST00000679076.1:c.984+62_984+67del
ENST00000679111.1:c.1365+62_1365+67del	ENSP00000504257.1:n.1365+62_1365+67del
ENST00000679189.1:c.1014+62_1014+67del	ENSP00000503356.1:n.1014+62_1014+67del
ENST00000341012.11:c.1203+62_1203+67del	ENSP00000343034.7:n.1203+62_1203+67del
ENST00000372220.4:c.228+62_228+67del	ENSP00000361294.4:n.228+62_228+67del
ENST00000372228.7:c.1431+62_1431+67del	ENSP00000361302.3:n.1431+62_1431+67del
ENST00000402686.7:c.1365+62_1365+67del	ENSP00000385797.3:n.1365+62_1365+67del
ENST00000404875.6:c.1014+62_1014+67del	ENSP00000384531.2:n.1014+62_1014+67del
ENST00000423007.5:c.1365+62_1365+67del	ENSP00000404119.1:n.1365+62_1365+67del
ENST00000485278.5:n.1920+62_1920+67del
NM_001077365.1:c.1365+62_1365+67del	NP_001070833.1:n.1365+62_1365+67del
NM_001077366.1:c.1203+62_1203+67del	NP_001070834.1:n.1203+62_1203+67del
NM_001136113.1:c.1365+62_1365+67del	NP_001129585.1:n.1365+62_1365+67del
NM_001136114.1:c.1014+62_1014+67del	NP_001129586.1:n.1014+62_1014+67del
NM_007171.3:c.1431+62_1431+67del	NP_009102.3:n.1431+62_1431+67del
XM_005272156.1:c.1431+62_1431+67del	XP_005272213.1:n.1431+62_1431+67del
XM_005272158.1:c.1269+62_1269+67del	XP_005272215.1:n.1269+62_1269+67del
XM_005272159.1:c.1080+62_1080+67del	XP_005272216.1:n.1080+62_1080+67del
XM_005272162.1:c.234+62_234+67del	XP_005272219.1:n.234+62_234+67del
XM_006716932.1:c.1080+62_1080+67del	XP_006716995.1:n.1080+62_1080+67del
XM_011518140.1:c.1284+62_1284+67del	XP_011516442.1:n.1284+62_1284+67del
XM_011518141.1:c.1218+62_1218+67del	XP_011516443.1:n.1218+62_1218+67del
XM_011518142.1:c.1122+62_1122+67del	XP_011516444.1:n.1122+62_1122+67del
XM_011518143.1:c.1116+62_1116+67del	XP_011516445.1:n.1116+62_1116+67del
XM_011518144.1:c.1431+62_1431+67del	XP_011516446.1:n.1431+62_1431+67del
XM_011518145.1:c.975+62_975+67del	XP_011516447.1:n.975+62_975+67del
XM_011518146.1:c.1116+62_1116+67del	XP_011516448.1:n.1116+62_1116+67del
XM_011518147.1:c.303+62_303+67del	XP_011516449.1:n.303+62_303+67del
XR_929703.1:n.1607+62_1607+67del
NM_001353193.1:c.1431+62_1431+67del	NP_001340122.1:n.1431+62_1431+67del
NM_001353194.1:c.1203+62_1203+67del	NP_001340123.1:n.1203+62_1203+67del
NM_001353195.1:c.1014+62_1014+67del	NP_001340124.1:n.1014+62_1014+67del
NM_001353196.1:c.1275+62_1275+67del	NP_001340125.1:n.1275+62_1275+67del
NM_001353197.1:c.1269+62_1269+67del	NP_001340126.1:n.1269+62_1269+67del
NM_001353198.1:c.1269+62_1269+67del	NP_001340127.1:n.1269+62_1269+67del
NM_001353199.1:c.1080+62_1080+67del	NP_001340128.1:n.1080+62_1080+67del
NM_001353200.1:c.909+62_909+67del	NP_001340129.1:n.909+62_909+67del
NR_148391.1:n.1415+62_1415+67del
NR_148392.1:n.1633+62_1633+67del
NR_148393.1:n.1415+62_1415+67del
NR_148394.1:n.1308+62_1308+67del
NR_148395.1:n.1567+62_1567+67del
NR_148396.1:n.1201+62_1201+67del
NR_148397.1:n.1465+62_1465+67del
NR_148398.1:n.1420+62_1420+67del
NR_148399.1:n.1807+62_1807+67del
NR_148400.1:n.1406+62_1406+67del
XM_005272162.3:c.234+62_234+67del	XP_005272219.1:n.234+62_234+67del
XM_006716932.2:c.1080+62_1080+67del	XP_006716995.1:n.1080+62_1080+67del
XM_011518140.2:c.1284+62_1284+67del	XP_011516442.1:n.1284+62_1284+67del
XM_011518141.2:c.1218+62_1218+67del	XP_011516443.1:n.1218+62_1218+67del
XM_011518142.2:c.1122+62_1122+67del	XP_011516444.1:n.1122+62_1122+67del
XM_011518143.2:c.1116+62_1116+67del	XP_011516445.1:n.1116+62_1116+67del
XM_011518145.2:c.975+62_975+67del	XP_011516447.1:n.975+62_975+67del
XM_017014205.2:c.234+62_234+67del	XP_016869694.1:n.234+62_234+67del
XM_024447380.1:c.234+62_234+67del	XP_024303148.1:n.234+62_234+67del
XM_024447381.1:c.540+62_540+67del	XP_024303149.1:n.540+62_540+67del
XM_024447382.1:c.234+62_234+67del	XP_024303150.1:n.234+62_234+67del
XR_001746160.2:n.1535+62_1535+67del
XR_001746162.2:n.1601+62_1601+67del
XR_001746164.1:n.1318+62_1318+67del
XR_001746166.2:n.1752+62_1752+67del
NM_001077365.2:c.1365+62_1365+67del MANE Select	NP_001070833.1:n.1365+62_1365+67del
NM_001077366.2:c.1203+62_1203+67del	NP_001070834.1:n.1203+62_1203+67del
NM_001136113.2:c.1365+62_1365+67del	NP_001129585.1:n.1365+62_1365+67del
NM_001136114.2:c.1014+62_1014+67del	NP_001129586.1:n.1014+62_1014+67del
NM_001353193.2:c.1431+62_1431+67del	NP_001340122.2:n.1431+62_1431+67del
NM_001353194.2:c.1203+62_1203+67del	NP_001340123.1:n.1203+62_1203+67del
NM_001353195.2:c.1014+62_1014+67del	NP_001340124.1:n.1014+62_1014+67del
NM_001353196.2:c.1275+62_1275+67del	NP_001340125.1:n.1275+62_1275+67del
NM_001353197.2:c.1269+62_1269+67del	NP_001340126.2:n.1269+62_1269+67del
NM_001353198.2:c.1269+62_1269+67del	NP_001340127.2:n.1269+62_1269+67del
NM_001353199.2:c.1080+62_1080+67del	NP_001340128.2:n.1080+62_1080+67del
NM_001353200.2:c.909+62_909+67del	NP_001340129.1:n.909+62_909+67del
NM_001374689.1:c.1353+62_1353+67del	NP_001361618.1:n.1353+62_1353+67del
NM_001374690.1:c.1365+62_1365+67del	NP_001361619.1:n.1365+62_1365+67del
NM_001374691.1:c.1014+62_1014+67del	NP_001361620.1:n.1014+62_1014+67del
NM_001374692.1:c.1014+62_1014+67del	NP_001361621.1:n.1014+62_1014+67del
NM_001374693.1:c.1014+62_1014+67del	NP_001361622.1:n.1014+62_1014+67del
NM_001374695.1:c.975+62_975+67del	NP_001361624.1:n.975+62_975+67del
NM_007171.4:c.1431+62_1431+67del	NP_009102.4:n.1431+62_1431+67del
NR_148391.2:n.1399+62_1399+67del
NR_148392.2:n.1617+62_1617+67del
NR_148393.2:n.1399+62_1399+67del
NR_148394.2:n.1292+62_1292+67del
NR_148395.2:n.1551+62_1551+67del
NR_148396.2:n.1185+62_1185+67del
NR_148397.2:n.1449+62_1449+67del
NR_148398.2:n.1404+62_1404+67del
NR_148399.2:n.1791+62_1791+67del
NR_148400.2:n.1390+62_1390+67del