Canonical Allele Identifier: CA2840592144

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545078_126545080del , CM000667.2:g.126545078_126545080del	GRCh38
NC_000005.9:g.125880770_125880772del , CM000667.1:g.125880770_125880772del	GRCh37
NC_000005.8:g.125908669_125908671del	NCBI36
NG_008600.2:g.55311_55313del
NG_008600.3:g.55311_55313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-61_1566-59del MANE Select	ENSP00000387123.3:n.1566-61_1566-59del
ENST00000458249.6:c.*1475-61_*1475-59del	ENSP00000403929.1:n.*1475-61_*1475-59del
ENST00000485852.7:n.313-61_313-59del
ENST00000497231.7:n.1993-61_1993-59del
ENST00000635851.1:c.1563+1244_1563+1246del
ENST00000636286.1:n.1331-61_1331-59del
ENST00000636482.1:n.1100-61_1100-59del
ENST00000636743.1:c.1446-61_1446-59del	ENSP00000489725.1:n.1446-61_1446-59del
ENST00000636808.1:c.*1375-61_*1375-59del	ENSP00000490833.1:n.*1375-61_*1375-59del
ENST00000636872.1:c.1726-61_1726-59del	ENSP00000490919.1:n.1726-61_1726-59del
ENST00000636879.1:c.1611-61_1611-59del	ENSP00000490811.1:n.1611-61_1611-59del
ENST00000636886.1:c.1365-61_1365-59del	ENSP00000490371.1:n.1365-61_1365-59del
ENST00000637206.1:c.1386-61_1386-59del	ENSP00000489895.1:n.1386-61_1386-59del
ENST00000637272.1:c.1557-61_1557-59del	ENSP00000489686.1:n.1557-61_1557-59del
ENST00000637292.1:c.1022-61_1022-59del
ENST00000637782.1:c.1565+1244_1565+1246del	ENSP00000490024.1:n.1565+1244_1565+1246del
ENST00000638008.1:c.*1410-61_*1410-59del	ENSP00000490400.1:n.*1410-61_*1410-59del
ENST00000638010.1:n.1512-61_1512-59del
ENST00000409134.7:c.1566-61_1566-59del	ENSP00000387123.3:n.1566-61_1566-59del
ENST00000447989.6:c.1455-61_1455-59del	ENSP00000414132.2:n.1455-61_1455-59del
ENST00000485852.6:n.313-61_313-59del
ENST00000497231.6:n.1776-61_1776-59del
ENST00000553117.5:c.1374-61_1374-59del	ENSP00000448593.1:n.1374-61_1374-59del
NM_001182.4:c.1566-61_1566-59del	NP_001173.2:n.1566-61_1566-59del
NM_001201377.1:c.1482-61_1482-59del	NP_001188306.1:n.1482-61_1482-59del
NM_001202404.1:c.1455-61_1455-59del	NP_001189333.1:n.1455-61_1455-59del
XM_011543417.1:c.1161-61_1161-59del	XP_011541719.1:n.1161-61_1161-59del
XM_011543417.2:c.1161-61_1161-59del	XP_011541719.1:n.1161-61_1161-59del
NM_001182.5:c.1566-61_1566-59del MANE Select	NP_001173.2:n.1566-61_1566-59del
NM_001201377.2:c.1482-61_1482-59del	NP_001188306.1:n.1482-61_1482-59del
NM_001202404.2:c.1374-61_1374-59del	NP_001189333.2:n.1374-61_1374-59del