Canonical Allele Identifier: CA1580443708

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1750018908

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552066_126552067del , CM000667.2:g.126552066_126552067del	GRCh38
NC_000005.9:g.125887758_125887759del , CM000667.1:g.125887758_125887759del	GRCh37
NC_000005.8:g.125915657_125915658del	NCBI36
NG_008600.2:g.48330_48331del
NG_008600.3:g.48330_48331del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1277_1278del MANE Select	ENSP00000387123.3:p.Thr426ArgfsTer11
ENST00000458249.6:c.*1186_*1187del	ENSP00000403929.1:n.*1186_*1187del
ENST00000497231.7:n.1704_1705del
ENST00000503281.6:c.866_867del
ENST00000635851.1:c.1275_1276del
ENST00000636062.1:n.1172_1173del
ENST00000636225.1:c.*1221_*1222del	ENSP00000490797.1:n.*1221_*1222del
ENST00000636286.1:n.995_996del
ENST00000636482.1:n.764_765del
ENST00000636743.1:c.1157_1158del	ENSP00000489725.1:p.Thr386ArgfsTer11
ENST00000636808.1:c.*1086_*1087del	ENSP00000490833.1:n.*1086_*1087del
ENST00000636872.1:c.1437_1438del	ENSP00000490919.1:n.1437_1438del
ENST00000636879.1:c.1322_1323del	ENSP00000490811.1:p.Thr441ArgfsTer11
ENST00000636886.1:c.1076_1077del	ENSP00000490371.1:p.Thr359ArgfsTer11
ENST00000637206.1:c.1097_1098del	ENSP00000489895.1:p.Thr366ArgfsTer11
ENST00000637272.1:c.1268_1269del	ENSP00000489686.1:p.Thr423ArgfsTer11
ENST00000637292.1:c.774-1768_774-1767del
ENST00000637782.1:c.1277_1278del	ENSP00000490024.1:p.Thr426ArgfsTer11
ENST00000638008.1:c.*1121_*1122del	ENSP00000490400.1:n.*1121_*1122del
ENST00000638010.1:n.1223_1224del
ENST00000409134.7:c.1277_1278del	ENSP00000387123.3:p.Thr426ArgfsTer11
ENST00000447989.6:c.1166_1167del	ENSP00000414132.2:p.Thr389ArgfsTer11
ENST00000476328.1:n.42_43del
ENST00000497231.6:n.1487_1488del
ENST00000503281.5:c.866_867del
ENST00000553117.5:c.1085_1086del	ENSP00000448593.1:p.Thr362ArgfsTer11
NM_001182.4:c.1277_1278del	NP_001173.2:p.Thr426ArgfsTer11
NM_001201377.1:c.1193_1194del	NP_001188306.1:p.Thr398ArgfsTer11
NM_001202404.1:c.1166_1167del	NP_001189333.1:p.Thr389ArgfsTer11
XM_011543417.1:c.872_873del	XP_011541719.1:p.Thr291ArgfsTer11
XM_011543417.2:c.872_873del	XP_011541719.1:p.Thr291ArgfsTer11
NM_001182.5:c.1277_1278del MANE Select	NP_001173.2:p.Thr426ArgfsTer11
NM_001201377.2:c.1193_1194del	NP_001188306.1:p.Thr398ArgfsTer11
NM_001202404.2:c.1085_1086del	NP_001189333.2:p.Thr362ArgfsTer11