Canonical Allele Identifier: CA2695205212

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126545018_126545026del , CM000667.2:g.126545018_126545026del	GRCh38
NC_000005.9:g.125880710_125880718del , CM000667.1:g.125880710_125880718del	GRCh37
NC_000005.8:g.125908609_125908617del	NCBI36
NG_008600.2:g.55366_55374del
NG_008600.3:g.55366_55374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1566-6_1568del
ENST00000458249.6:c.*1475-6_*1477del
ENST00000485852.7:n.313-6_315del
ENST00000497231.7:n.1993-6_1995del
ENST00000635851.1:c.1563+1299_1563+1307del
ENST00000636286.1:n.1331-6_1333del
ENST00000636482.1:n.1100-6_1102del
ENST00000636743.1:c.1446-6_1448del
ENST00000636808.1:c.*1375-6_*1377del
ENST00000636872.1:c.1726-6_1728del
ENST00000636879.1:c.1611-6_1613del
ENST00000636886.1:c.1365-6_1367del
ENST00000637206.1:c.1386-6_1388del
ENST00000637272.1:c.1557-6_1559del
ENST00000637292.1:c.1022-6_1024del
ENST00000637782.1:c.1565+1299_1565+1307del	ENSP00000490024.1:n.1565+1299_1565+1307del
ENST00000638008.1:c.*1410-6_*1412del
ENST00000638010.1:n.1512-6_1514del
ENST00000409134.7:c.1566-6_1568del
ENST00000447989.6:c.1455-6_1457del
ENST00000485852.6:n.313-6_315del
ENST00000497231.6:n.1776-6_1778del
ENST00000553117.5:c.1374-6_1376del
NM_001182.4:c.1566-6_1568del
NM_001201377.1:c.1482-6_1484del
NM_001202404.1:c.1455-6_1457del
XM_011543417.1:c.1161-6_1163del
XM_011543417.2:c.1161-6_1163del
NM_001182.5:c.1566-6_1568del
NM_001201377.2:c.1482-6_1484del
NM_001202404.2:c.1374-6_1376del