Canonical Allele Identifier: CA1580440554

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545294_126545295delinsAG , CM000667.2:g.126545294_126545295delinsAG	GRCh38
NC_000005.9:g.125880986_125880987delinsAG , CM000667.1:g.125880986_125880987delinsAG	GRCh37
NC_000005.8:g.125908885_125908886delinsAG	NCBI36
NG_008600.2:g.55096_55097delinsCT
NG_008600.3:g.55096_55097delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-276_1566-275delinsCT MANE Select	ENSP00000387123.3:n.1566-276_1566-275delinsCT
ENST00000458249.6:c.*1475-276_*1475-275delinsCT	ENSP00000403929.1:n.*1475-276_*1475-275delinsCT
ENST00000485852.7:n.313-276_313-275delinsCT
ENST00000497231.7:n.1993-276_1993-275delinsCT
ENST00000635851.1:c.1563+1029_1563+1030delinsCT
ENST00000636286.1:n.1331-276_1331-275delinsCT
ENST00000636482.1:n.1100-276_1100-275delinsCT
ENST00000636743.1:c.1446-276_1446-275delinsCT	ENSP00000489725.1:n.1446-276_1446-275delinsCT
ENST00000636808.1:c.*1375-276_*1375-275delinsCT	ENSP00000490833.1:n.*1375-276_*1375-275delinsCT
ENST00000636872.1:c.1726-276_1726-275delinsCT	ENSP00000490919.1:n.1726-276_1726-275delinsCT
ENST00000636879.1:c.1611-276_1611-275delinsCT	ENSP00000490811.1:n.1611-276_1611-275delinsCT
ENST00000636886.1:c.1365-276_1365-275delinsCT	ENSP00000490371.1:n.1365-276_1365-275delinsCT
ENST00000637206.1:c.1386-276_1386-275delinsCT	ENSP00000489895.1:n.1386-276_1386-275delinsCT
ENST00000637272.1:c.1557-276_1557-275delinsCT	ENSP00000489686.1:n.1557-276_1557-275delinsCT
ENST00000637292.1:c.1022-276_1022-275delinsCT
ENST00000637782.1:c.1565+1029_1565+1030delinsCT	ENSP00000490024.1:n.1565+1029_1565+1030delinsCT
ENST00000638008.1:c.*1410-276_*1410-275delinsCT	ENSP00000490400.1:n.*1410-276_*1410-275delinsCT
ENST00000638010.1:n.1512-276_1512-275delinsCT
ENST00000409134.7:c.1566-276_1566-275delinsCT	ENSP00000387123.3:n.1566-276_1566-275delinsCT
ENST00000447989.6:c.1455-276_1455-275delinsCT	ENSP00000414132.2:n.1455-276_1455-275delinsCT
ENST00000485852.6:n.313-276_313-275delinsCT
ENST00000497231.6:n.1776-276_1776-275delinsCT
ENST00000553117.5:c.1374-276_1374-275delinsCT	ENSP00000448593.1:n.1374-276_1374-275delinsCT
NM_001182.4:c.1566-276_1566-275delinsCT	NP_001173.2:n.1566-276_1566-275delinsCT
NM_001201377.1:c.1482-276_1482-275delinsCT	NP_001188306.1:n.1482-276_1482-275delinsCT
NM_001202404.1:c.1455-276_1455-275delinsCT	NP_001189333.1:n.1455-276_1455-275delinsCT
XM_011543417.1:c.1161-276_1161-275delinsCT	XP_011541719.1:n.1161-276_1161-275delinsCT
XM_011543417.2:c.1161-276_1161-275delinsCT	XP_011541719.1:n.1161-276_1161-275delinsCT
NM_001182.5:c.1566-276_1566-275delinsCT MANE Select	NP_001173.2:n.1566-276_1566-275delinsCT
NM_001201377.2:c.1482-276_1482-275delinsCT	NP_001188306.1:n.1482-276_1482-275delinsCT
NM_001202404.2:c.1374-276_1374-275delinsCT	NP_001189333.2:n.1374-276_1374-275delinsCT