Canonical Allele Identifier: CA3656654

Gene: ALDH5A1

Linked Data

• ClinVar Variation Id: 663114
• ClinVar RCV Id: RCV000820918 ; RCV002282382
• dbSNP Id: rs755029414
• ExAC: 6:24503613 G / GGCCCTTT
• gnomAD v2: 6-24503613-G-GGCCCTTT
• gnomAD v4: 6-24503385-G-GGCCCTTT
• MyVariant Identifiers: chr6:g.24503613_24503614insGCCCTTT (hg19) ; chr6:g.24503385_24503386insGCCCTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503390_24503391insTTGCCCT , CM000668.2:g.24503390_24503391insTTGCCCT	GRCh38
NC_000006.11:g.24503618_24503619insTTGCCCT , CM000668.1:g.24503618_24503619insTTGCCCT	GRCh37
NC_000006.10:g.24611597_24611598insTTGCCCT	NCBI36
NG_008161.1:g.13422_13423insTTGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.566_567insTTGCCCT MANE Select	ENSP00000350191.3:p.Val190CysfsTer?
ENST00000672352.1:c.329_330insTTGCCCT	ENSP00000500876.1:p.Val111CysfsTer?
ENST00000672557.1:c.484_485insTTGCCCT
ENST00000672652.1:c.487_488insTTGCCCT
ENST00000675422.1:n.1326_1327insTTGCCCT
ENST00000348925.2:c.566_567insTTGCCCT	ENSP00000314649.3:p.Val190CysfsTer?
ENST00000357578.7:c.566_567insTTGCCCT	ENSP00000350191.3:p.Val190CysfsTer?
ENST00000491546.5:c.482_483insTTGCCCT	ENSP00000417687.1:p.Val162CysfsTer?
NM_001080.3:c.566_567insTTGCCCT MANE Select	NP_001071.1:p.Val190CysfsTer?
NM_170740.1:c.566_567insTTGCCCT	NP_733936.1:p.Val190CysfsTer?
NM_001368954.1:c.566_567insTTGCCCT	NP_001355883.1:p.Val190CysfsTer?