Canonical Allele Identifier: CA1580443658

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1750013357
• gnomAD v4: 5-126551956-TCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126551960_126551962del , CM000667.2:g.126551960_126551962del	GRCh38
NC_000005.9:g.125887652_125887654del , CM000667.1:g.125887652_125887654del	GRCh37
NC_000005.8:g.125915551_125915553del	NCBI36
NG_008600.2:g.48432_48434del
NG_008600.3:g.48432_48434del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1317+62_1317+64del MANE Select	ENSP00000387123.3:n.1317+62_1317+64del
ENST00000458249.6:c.*1226+62_*1226+64del	ENSP00000403929.1:n.*1226+62_*1226+64del
ENST00000497231.7:n.1744+62_1744+64del
ENST00000503281.6:c.906+62_906+64del
ENST00000635851.1:c.1315+62_1315+64del
ENST00000636062.1:n.1212+62_1212+64del
ENST00000636225.1:c.*1261+62_*1261+64del	ENSP00000490797.1:n.*1261+62_*1261+64del
ENST00000636286.1:n.1035+62_1035+64del
ENST00000636482.1:n.804+62_804+64del
ENST00000636743.1:c.1197+62_1197+64del	ENSP00000489725.1:n.1197+62_1197+64del
ENST00000636808.1:c.*1126+62_*1126+64del	ENSP00000490833.1:n.*1126+62_*1126+64del
ENST00000636872.1:c.1477+62_1477+64del	ENSP00000490919.1:n.1477+62_1477+64del
ENST00000636879.1:c.1362+62_1362+64del	ENSP00000490811.1:n.1362+62_1362+64del
ENST00000636886.1:c.1116+62_1116+64del	ENSP00000490371.1:n.1116+62_1116+64del
ENST00000637206.1:c.1137+62_1137+64del	ENSP00000489895.1:n.1137+62_1137+64del
ENST00000637272.1:c.1308+62_1308+64del	ENSP00000489686.1:n.1308+62_1308+64del
ENST00000637292.1:c.774-1666_774-1664del
ENST00000637782.1:c.1317+62_1317+64del	ENSP00000490024.1:n.1317+62_1317+64del
ENST00000638008.1:c.*1161+62_*1161+64del	ENSP00000490400.1:n.*1161+62_*1161+64del
ENST00000638010.1:n.1263+62_1263+64del
ENST00000409134.7:c.1317+62_1317+64del	ENSP00000387123.3:n.1317+62_1317+64del
ENST00000447989.6:c.1206+62_1206+64del	ENSP00000414132.2:n.1206+62_1206+64del
ENST00000476328.1:n.82+62_82+64del
ENST00000497231.6:n.1527+62_1527+64del
ENST00000553117.5:c.1125+62_1125+64del	ENSP00000448593.1:n.1125+62_1125+64del
NM_001182.4:c.1317+62_1317+64del	NP_001173.2:n.1317+62_1317+64del
NM_001201377.1:c.1233+62_1233+64del	NP_001188306.1:n.1233+62_1233+64del
NM_001202404.1:c.1206+62_1206+64del	NP_001189333.1:n.1206+62_1206+64del
XM_011543417.1:c.912+62_912+64del	XP_011541719.1:n.912+62_912+64del
XM_011543417.2:c.912+62_912+64del	XP_011541719.1:n.912+62_912+64del
NM_001182.5:c.1317+62_1317+64del MANE Select	NP_001173.2:n.1317+62_1317+64del
NM_001201377.2:c.1233+62_1233+64del	NP_001188306.1:n.1233+62_1233+64del
NM_001202404.2:c.1125+62_1125+64del	NP_001189333.2:n.1125+62_1125+64del