Canonical Allele Identifier: CA1580443706

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552059_126552061delinsCTG , CM000667.2:g.126552059_126552061delinsCTG	GRCh38
NC_000005.9:g.125887751_125887753delinsCTG , CM000667.1:g.125887751_125887753delinsCTG	GRCh37
NC_000005.8:g.125915650_125915652delinsCTG	NCBI36
NG_008600.2:g.48330_48332delinsCAG
NG_008600.3:g.48330_48332delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1277_1279delinsCAG MANE Select	ENSP00000387123.3:p.Thr426=
ENST00000458249.6:c.*1186_*1188delinsCAG	ENSP00000403929.1:n.*1186_*1188delinsCAG
ENST00000497231.7:n.1704_1706delinsCAG
ENST00000503281.6:c.866_868delinsCAG
ENST00000635851.1:c.1275_1277delinsCAG
ENST00000636062.1:n.1172_1174delinsCAG
ENST00000636225.1:c.*1221_*1223delinsCAG	ENSP00000490797.1:n.*1221_*1223delinsCAG
ENST00000636286.1:n.995_997delinsCAG
ENST00000636482.1:n.764_766delinsCAG
ENST00000636743.1:c.1157_1159delinsCAG	ENSP00000489725.1:p.Thr386=
ENST00000636808.1:c.*1086_*1088delinsCAG	ENSP00000490833.1:n.*1086_*1088delinsCAG
ENST00000636872.1:c.1437_1439delinsCAG	ENSP00000490919.1:n.1437_1439delinsCAG
ENST00000636879.1:c.1322_1324delinsCAG	ENSP00000490811.1:p.Thr441=
ENST00000636886.1:c.1076_1078delinsCAG	ENSP00000490371.1:p.Thr359=
ENST00000637206.1:c.1097_1099delinsCAG	ENSP00000489895.1:p.Thr366=
ENST00000637272.1:c.1268_1270delinsCAG	ENSP00000489686.1:p.Thr423=
ENST00000637292.1:c.774-1768_774-1766delinsCAG
ENST00000637782.1:c.1277_1279delinsCAG	ENSP00000490024.1:p.Thr426=
ENST00000638008.1:c.*1121_*1123delinsCAG	ENSP00000490400.1:n.*1121_*1123delinsCAG
ENST00000638010.1:n.1223_1225delinsCAG
ENST00000409134.7:c.1277_1279delinsCAG	ENSP00000387123.3:p.Thr426=
ENST00000447989.6:c.1166_1168delinsCAG	ENSP00000414132.2:p.Thr389=
ENST00000476328.1:n.42_44delinsCAG
ENST00000497231.6:n.1487_1489delinsCAG
ENST00000503281.5:c.866_868delinsCAG
ENST00000553117.5:c.1085_1087delinsCAG	ENSP00000448593.1:p.Thr362=
NM_001182.4:c.1277_1279delinsCAG	NP_001173.2:p.Thr426=
NM_001201377.1:c.1193_1195delinsCAG	NP_001188306.1:p.Thr398=
NM_001202404.1:c.1166_1168delinsCAG	NP_001189333.1:p.Thr389=
XM_011543417.1:c.872_874delinsCAG	XP_011541719.1:p.Thr291=
XM_011543417.2:c.872_874delinsCAG	XP_011541719.1:p.Thr291=
NM_001182.5:c.1277_1279delinsCAG MANE Select	NP_001173.2:p.Thr426=
NM_001201377.2:c.1193_1195delinsCAG	NP_001188306.1:p.Thr398=
NM_001202404.2:c.1085_1087delinsCAG	NP_001189333.2:p.Thr362=