Canonical Allele Identifier: CA2770332150
Gene: ALDH5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24527905_24527906insTTTTTTTTT , CM000668.2:g.24527905_24527906insTTTTTTTTT GRCh38
NC_000006.11:g.24528133_24528134insTTTTTTTTT , CM000668.1:g.24528133_24528134insTTTTTTTTT GRCh37
NC_000006.10:g.24636112_24636113insTTTTTTTTT NCBI36
NG_008161.1:g.37937_37938insTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.1174-92_1174-91insTTTTTTTTT MANE Select ENSP00000350191.3:n.1174-92_1174-91insTTTTTTTTT
ENST00000479394.2:n.289-92_289-91insTTTTTTTTT
ENST00000672352.1:c.793-92_793-91insTTTTTTTTT ENSP00000500876.1:n.793-92_793-91insTTTTTTTTT
ENST00000672652.1:c.1137-92_1137-91insTTTTTTTTT
ENST00000348925.2:c.1213-92_1213-91insTTTTTTTTT ENSP00000314649.3:n.1213-92_1213-91insTTTTTTTTT
ENST00000357578.7:c.1174-92_1174-91insTTTTTTTTT ENSP00000350191.3:n.1174-92_1174-91insTTTTTTTTT
ENST00000479394.1:n.289-92_289-91insTTTTTTTTT
ENST00000491546.5:c.1090-92_1090-91insTTTTTTTTT ENSP00000417687.1:n.1090-92_1090-91insTTTTTTTTT
NM_001080.3:c.1174-92_1174-91insTTTTTTTTT MANE Select NP_001071.1:n.1174-92_1174-91insTTTTTTTTT
NM_170740.1:c.1213-92_1213-91insTTTTTTTTT NP_733936.1:n.1213-92_1213-91insTTTTTTTTT
NM_001368954.1:c.1030-92_1030-91insTTTTTTTTT NP_001355883.1:n.1030-92_1030-91insTTTTTTTTT