Canonical Allele Identifier: CA1580440423

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545024_126545025delinsTG , CM000667.2:g.126545024_126545025delinsTG	GRCh38
NC_000005.9:g.125880716_125880717delinsTG , CM000667.1:g.125880716_125880717delinsTG	GRCh37
NC_000005.8:g.125908615_125908616delinsTG	NCBI36
NG_008600.2:g.55366_55367delinsCA
NG_008600.3:g.55366_55367delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-6_1566-5delinsCA MANE Select	ENSP00000387123.3:n.1566-6_1566-5delinsCA
ENST00000458249.6:c.*1475-6_*1475-5delinsCA	ENSP00000403929.1:n.*1475-6_*1475-5delinsCA
ENST00000485852.7:n.313-6_313-5delinsCA
ENST00000497231.7:n.1993-6_1993-5delinsCA
ENST00000635851.1:c.1563+1299_1563+1300delinsCA
ENST00000636286.1:n.1331-6_1331-5delinsCA
ENST00000636482.1:n.1100-6_1100-5delinsCA
ENST00000636743.1:c.1446-6_1446-5delinsCA	ENSP00000489725.1:n.1446-6_1446-5delinsCA
ENST00000636808.1:c.*1375-6_*1375-5delinsCA	ENSP00000490833.1:n.*1375-6_*1375-5delinsCA
ENST00000636872.1:c.1726-6_1726-5delinsCA	ENSP00000490919.1:n.1726-6_1726-5delinsCA
ENST00000636879.1:c.1611-6_1611-5delinsCA	ENSP00000490811.1:n.1611-6_1611-5delinsCA
ENST00000636886.1:c.1365-6_1365-5delinsCA	ENSP00000490371.1:n.1365-6_1365-5delinsCA
ENST00000637206.1:c.1386-6_1386-5delinsCA	ENSP00000489895.1:n.1386-6_1386-5delinsCA
ENST00000637272.1:c.1557-6_1557-5delinsCA	ENSP00000489686.1:n.1557-6_1557-5delinsCA
ENST00000637292.1:c.1022-6_1022-5delinsCA
ENST00000637782.1:c.1565+1299_1565+1300delinsCA	ENSP00000490024.1:n.1565+1299_1565+1300delinsCA
ENST00000638008.1:c.*1410-6_*1410-5delinsCA	ENSP00000490400.1:n.*1410-6_*1410-5delinsCA
ENST00000638010.1:n.1512-6_1512-5delinsCA
ENST00000409134.7:c.1566-6_1566-5delinsCA	ENSP00000387123.3:n.1566-6_1566-5delinsCA
ENST00000447989.6:c.1455-6_1455-5delinsCA	ENSP00000414132.2:n.1455-6_1455-5delinsCA
ENST00000485852.6:n.313-6_313-5delinsCA
ENST00000497231.6:n.1776-6_1776-5delinsCA
ENST00000553117.5:c.1374-6_1374-5delinsCA	ENSP00000448593.1:n.1374-6_1374-5delinsCA
NM_001182.4:c.1566-6_1566-5delinsCA	NP_001173.2:n.1566-6_1566-5delinsCA
NM_001201377.1:c.1482-6_1482-5delinsCA	NP_001188306.1:n.1482-6_1482-5delinsCA
NM_001202404.1:c.1455-6_1455-5delinsCA	NP_001189333.1:n.1455-6_1455-5delinsCA
XM_011543417.1:c.1161-6_1161-5delinsCA	XP_011541719.1:n.1161-6_1161-5delinsCA
XM_011543417.2:c.1161-6_1161-5delinsCA	XP_011541719.1:n.1161-6_1161-5delinsCA
NM_001182.5:c.1566-6_1566-5delinsCA MANE Select	NP_001173.2:n.1566-6_1566-5delinsCA
NM_001201377.2:c.1482-6_1482-5delinsCA	NP_001188306.1:n.1482-6_1482-5delinsCA
NM_001202404.2:c.1374-6_1374-5delinsCA	NP_001189333.2:n.1374-6_1374-5delinsCA