Canonical Allele Identifier: CA2677527925

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24503475-ATAGGGAGTTGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503476_24503487del , CM000668.2:g.24503476_24503487del	GRCh38
NC_000006.11:g.24503704_24503715del , CM000668.1:g.24503704_24503715del	GRCh37
NC_000006.10:g.24611683_24611694del	NCBI36
NG_008161.1:g.13508_13519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.609+43_609+54del MANE Select	ENSP00000350191.3:n.609+43_609+54del
ENST00000672352.1:c.372+43_372+54del	ENSP00000500876.1:n.372+43_372+54del
ENST00000672557.1:c.527+43_527+54del
ENST00000672652.1:c.530+43_530+54del
ENST00000675422.1:n.1369+43_1369+54del
ENST00000348925.2:c.609+43_609+54del	ENSP00000314649.3:n.609+43_609+54del
ENST00000357578.7:c.609+43_609+54del	ENSP00000350191.3:n.609+43_609+54del
ENST00000491546.5:c.525+43_525+54del	ENSP00000417687.1:n.525+43_525+54del
NM_001080.3:c.609+43_609+54del MANE Select	NP_001071.1:n.609+43_609+54del
NM_170740.1:c.609+43_609+54del	NP_733936.1:n.609+43_609+54del
NM_001368954.1:c.609+43_609+54del	NP_001355883.1:n.609+43_609+54del