Canonical Allele Identifier: CA313226

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 204860
• ClinVar RCV Id: RCV000186758 ; RCV001852439 ; RCV002317068
• dbSNP Id: rs796052268
• gnomAD v4: 5-126546393-TCTC-T
• MyVariant Identifiers: chr5:g.125882086_125882088del (hg19) ; chr5:g.126546394_126546396del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546399_126546401del , CM000667.2:g.126546399_126546401del	GRCh38
NC_000005.9:g.125882091_125882093del , CM000667.1:g.125882091_125882093del	GRCh37
NC_000005.8:g.125909990_125909992del	NCBI36
NG_008600.2:g.53995_53997del
NG_008600.3:g.53995_53997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1493_1495del
ENST00000458249.6:c.*1402_*1404del
ENST00000485852.7:n.240_242del
ENST00000497231.7:n.1920_1922del
ENST00000635851.1:c.1491_1493del
ENST00000636225.1:c.*1437_*1439del
ENST00000636286.1:n.1258_1260del
ENST00000636482.1:n.1027_1029del
ENST00000636743.1:c.1373_1375del
ENST00000636808.1:c.*1302_*1304del
ENST00000636872.1:c.1653_1655del
ENST00000636879.1:c.1538_1540del
ENST00000636886.1:c.1292_1294del
ENST00000637206.1:c.1313_1315del
ENST00000637272.1:c.1484_1486del
ENST00000637292.1:c.949_951del
ENST00000637782.1:c.1493_1495del
ENST00000638008.1:c.*1337_*1339del
ENST00000638010.1:n.1439_1441del
ENST00000409134.7:c.1493_1495del
ENST00000447989.6:c.1382_1384del
ENST00000485852.6:n.240_242del
ENST00000497231.6:n.1703_1705del
ENST00000553117.5:c.1301_1303del
NM_001182.4:c.1493_1495del
NM_001201377.1:c.1409_1411del
NM_001202404.1:c.1382_1384del
XM_011543417.1:c.1088_1090del
XM_011543417.2:c.1088_1090del
NM_001182.5:c.1493_1495del
NM_001201377.2:c.1409_1411del
NM_001202404.2:c.1301_1303del