Canonical Allele Identifier: CA1713949509
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66087392_66087394delinsACG , CM000669.2:g.66087392_66087394delinsACG GRCh38
NC_000007.13:g.65552379_65552381delinsACG , CM000669.1:g.65552379_65552381delinsACG GRCh37
NC_000007.12:g.65189814_65189816delinsACG NCBI36
NG_009288.1:g.16604_16606delinsACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.655+6_655+8delinsACG MANE Select ENSP00000307188.9:n.655+6_655+8delinsACG
ENST00000362000.10:c.460+6_460+8delinsACG ENSP00000354710.6:n.460+6_460+8delinsACG
ENST00000380839.9:c.577+6_577+8delinsACG ENSP00000370219.4:n.577+6_577+8delinsACG
ENST00000395331.4:c.655+6_655+8delinsACG ENSP00000378740.3:n.655+6_655+8delinsACG
ENST00000395332.8:c.655+6_655+8delinsACG ENSP00000378741.3:n.655+6_655+8delinsACG
ENST00000671817.1:c.577+6_577+8delinsACG ENSP00000500462.1:n.577+6_577+8delinsACG
ENST00000672498.1:c.447-337_447-335delinsACG ENSP00000500227.1:n.447-337_447-335delinsACG
ENST00000672586.1:n.1078_1080delinsACG
ENST00000672676.1:n.1343_1345delinsACG
ENST00000673149.1:n.467+6_467+8delinsACG
ENST00000673350.1:n.1421_1423delinsACG
ENST00000673518.1:c.577+6_577+8delinsACG ENSP00000499889.1:n.577+6_577+8delinsACG
ENST00000673594.1:n.510_512delinsACG
ENST00000304874.13:c.655+6_655+8delinsACG ENSP00000307188.9:n.655+6_655+8delinsACG
ENST00000362000.9:c.460+6_460+8delinsACG ENSP00000354710.5:n.460+6_460+8delinsACG
ENST00000380839.8:c.577+6_577+8delinsACG ENSP00000370219.4:n.577+6_577+8delinsACG
ENST00000395331.3:c.655+6_655+8delinsACG ENSP00000378740.3:n.655+6_655+8delinsACG
ENST00000395332.7:c.655+6_655+8delinsACG ENSP00000378741.3:n.655+6_655+8delinsACG
NM_000048.3:c.655+6_655+8delinsACG NP_000039.2:n.655+6_655+8delinsACG
NM_001024943.1:c.655+6_655+8delinsACG NP_001020114.1:n.655+6_655+8delinsACG
NM_001024944.1:c.655+6_655+8delinsACG NP_001020115.1:n.655+6_655+8delinsACG
NM_001024946.1:c.577+6_577+8delinsACG NP_001020117.1:n.577+6_577+8delinsACG
NM_000048.4:c.655+6_655+8delinsACG MANE Select NP_000039.2:n.655+6_655+8delinsACG
NM_001024943.2:c.655+6_655+8delinsACG NP_001020114.1:n.655+6_655+8delinsACG
NM_001024944.2:c.655+6_655+8delinsACG NP_001020115.1:n.655+6_655+8delinsACG
NM_001024946.2:c.577+6_577+8delinsACG NP_001020117.1:n.577+6_577+8delinsACG