Canonical Allele Identifier: CA1616535057

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528306_24528307delinsAT , CM000668.2:g.24528306_24528307delinsAT	GRCh38
NC_000006.11:g.24528534_24528535delinsAT , CM000668.1:g.24528534_24528535delinsAT	GRCh37
NC_000006.10:g.24636513_24636514delinsAT	NCBI36
NG_008161.1:g.38338_38339delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1343+140_1343+141delinsAT MANE Select	ENSP00000350191.3:n.1343+140_1343+141delinsAT
ENST00000479394.2:n.458+140_458+141delinsAT
ENST00000672352.1:c.962+140_962+141delinsAT	ENSP00000500876.1:n.962+140_962+141delinsAT
ENST00000672652.1:c.1306+140_1306+141delinsAT
ENST00000348925.2:c.1382+140_1382+141delinsAT	ENSP00000314649.3:n.1382+140_1382+141delinsAT
ENST00000357578.7:c.1343+140_1343+141delinsAT	ENSP00000350191.3:n.1343+140_1343+141delinsAT
ENST00000479394.1:n.458+140_458+141delinsAT
ENST00000491546.5:c.1259+140_1259+141delinsAT	ENSP00000417687.1:n.1259+140_1259+141delinsAT
NM_001080.3:c.1343+140_1343+141delinsAT MANE Select	NP_001071.1:n.1343+140_1343+141delinsAT
NM_170740.1:c.1382+140_1382+141delinsAT	NP_733936.1:n.1382+140_1382+141delinsAT
NM_001368954.1:c.1199+140_1199+141delinsAT	NP_001355883.1:n.1199+140_1199+141delinsAT