Canonical Allele Identifier: CA1580443651

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126551934_126551935delinsAG , CM000667.2:g.126551934_126551935delinsAG	GRCh38
NC_000005.9:g.125887626_125887627delinsAG , CM000667.1:g.125887626_125887627delinsAG	GRCh37
NC_000005.8:g.125915525_125915526delinsAG	NCBI36
NG_008600.2:g.48456_48457delinsCT
NG_008600.3:g.48456_48457delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1317+86_1317+87delinsCT MANE Select	ENSP00000387123.3:n.1317+86_1317+87delinsCT
ENST00000458249.6:c.*1226+86_*1226+87delinsCT	ENSP00000403929.1:n.*1226+86_*1226+87delinsCT
ENST00000497231.7:n.1744+86_1744+87delinsCT
ENST00000503281.6:c.906+86_906+87delinsCT
ENST00000635851.1:c.1315+86_1315+87delinsCT
ENST00000636062.1:n.1212+86_1212+87delinsCT
ENST00000636225.1:c.*1261+86_*1261+87delinsCT	ENSP00000490797.1:n.*1261+86_*1261+87delinsCT
ENST00000636286.1:n.1035+86_1035+87delinsCT
ENST00000636482.1:n.804+86_804+87delinsCT
ENST00000636743.1:c.1197+86_1197+87delinsCT	ENSP00000489725.1:n.1197+86_1197+87delinsCT
ENST00000636808.1:c.*1126+86_*1126+87delinsCT	ENSP00000490833.1:n.*1126+86_*1126+87delinsCT
ENST00000636872.1:c.1477+86_1477+87delinsCT	ENSP00000490919.1:n.1477+86_1477+87delinsCT
ENST00000636879.1:c.1362+86_1362+87delinsCT	ENSP00000490811.1:n.1362+86_1362+87delinsCT
ENST00000636886.1:c.1116+86_1116+87delinsCT	ENSP00000490371.1:n.1116+86_1116+87delinsCT
ENST00000637206.1:c.1137+86_1137+87delinsCT	ENSP00000489895.1:n.1137+86_1137+87delinsCT
ENST00000637272.1:c.1308+86_1308+87delinsCT	ENSP00000489686.1:n.1308+86_1308+87delinsCT
ENST00000637292.1:c.774-1642_774-1641delinsCT
ENST00000637782.1:c.1317+86_1317+87delinsCT	ENSP00000490024.1:n.1317+86_1317+87delinsCT
ENST00000638008.1:c.*1161+86_*1161+87delinsCT	ENSP00000490400.1:n.*1161+86_*1161+87delinsCT
ENST00000638010.1:n.1263+86_1263+87delinsCT
ENST00000409134.7:c.1317+86_1317+87delinsCT	ENSP00000387123.3:n.1317+86_1317+87delinsCT
ENST00000447989.6:c.1206+86_1206+87delinsCT	ENSP00000414132.2:n.1206+86_1206+87delinsCT
ENST00000476328.1:n.82+86_82+87delinsCT
ENST00000497231.6:n.1527+86_1527+87delinsCT
ENST00000553117.5:c.1125+86_1125+87delinsCT	ENSP00000448593.1:n.1125+86_1125+87delinsCT
NM_001182.4:c.1317+86_1317+87delinsCT	NP_001173.2:n.1317+86_1317+87delinsCT
NM_001201377.1:c.1233+86_1233+87delinsCT	NP_001188306.1:n.1233+86_1233+87delinsCT
NM_001202404.1:c.1206+86_1206+87delinsCT	NP_001189333.1:n.1206+86_1206+87delinsCT
XM_011543417.1:c.912+86_912+87delinsCT	XP_011541719.1:n.912+86_912+87delinsCT
XM_011543417.2:c.912+86_912+87delinsCT	XP_011541719.1:n.912+86_912+87delinsCT
NM_001182.5:c.1317+86_1317+87delinsCT MANE Select	NP_001173.2:n.1317+86_1317+87delinsCT
NM_001201377.2:c.1233+86_1233+87delinsCT	NP_001188306.1:n.1233+86_1233+87delinsCT
NM_001202404.2:c.1125+86_1125+87delinsCT	NP_001189333.2:n.1125+86_1125+87delinsCT