Canonical Allele Identifier: CA2768291380

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545000_126545001del , CM000667.2:g.126545000_126545001del	GRCh38
NC_000005.9:g.125880692_125880693del , CM000667.1:g.125880692_125880693del	GRCh37
NC_000005.8:g.125908591_125908592del	NCBI36
NG_008600.2:g.55391_55392del
NG_008600.3:g.55391_55392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1585_1586del MANE Select	ENSP00000387123.3:p.Asp529ProfsTer15
ENST00000458249.6:c.*1494_*1495del	ENSP00000403929.1:n.*1494_*1495del
ENST00000485852.7:n.332_333del
ENST00000497231.7:n.2012_2013del
ENST00000635851.1:c.1563+1324_1563+1325del
ENST00000636286.1:n.1350_1351del
ENST00000636482.1:n.1119_1120del
ENST00000636743.1:c.1465_1466del	ENSP00000489725.1:p.Asp489ProfsTer15
ENST00000636808.1:c.*1394_*1395del	ENSP00000490833.1:n.*1394_*1395del
ENST00000636872.1:c.1745_1746del	ENSP00000490919.1:n.1745_1746del
ENST00000636879.1:c.1630_1631del	ENSP00000490811.1:p.Asp544ProfsTer15
ENST00000636886.1:c.1384_1385del	ENSP00000490371.1:p.Asp462ProfsTer15
ENST00000637206.1:c.1405_1406del	ENSP00000489895.1:p.Asp469ProfsTer15
ENST00000637272.1:c.1576_1577del	ENSP00000489686.1:p.Asp526ProfsTer15
ENST00000637292.1:c.1041_1042del
ENST00000637782.1:c.1565+1324_1565+1325del	ENSP00000490024.1:n.1565+1324_1565+1325del
ENST00000638008.1:c.*1429_*1430del	ENSP00000490400.1:n.*1429_*1430del
ENST00000638010.1:n.1531_1532del
ENST00000409134.7:c.1585_1586del	ENSP00000387123.3:p.Asp529ProfsTer15
ENST00000447989.6:c.1474_1475del	ENSP00000414132.2:p.Asp492ProfsTer15
ENST00000485852.6:n.332_333del
ENST00000497231.6:n.1795_1796del
ENST00000553117.5:c.1393_1394del	ENSP00000448593.1:p.Asp465ProfsTer15
NM_001182.4:c.1585_1586del	NP_001173.2:p.Asp529ProfsTer15
NM_001201377.1:c.1501_1502del	NP_001188306.1:p.Asp501ProfsTer15
NM_001202404.1:c.1474_1475del	NP_001189333.1:p.Asp492ProfsTer15
XM_011543417.1:c.1180_1181del	XP_011541719.1:p.Asp394ProfsTer15
XM_011543417.2:c.1180_1181del	XP_011541719.1:p.Asp394ProfsTer15
NM_001182.5:c.1585_1586del MANE Select	NP_001173.2:p.Asp529ProfsTer15
NM_001201377.2:c.1501_1502del	NP_001188306.1:p.Asp501ProfsTer15
NM_001202404.2:c.1393_1394del	NP_001189333.2:p.Asp465ProfsTer15