Canonical Allele Identifier: CA1713940514
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66082878_66082879delinsAG , CM000669.2:g.66082878_66082879delinsAG GRCh38
NC_000007.13:g.65547865_65547866delinsAG , CM000669.1:g.65547865_65547866delinsAG GRCh37
NC_000007.12:g.65185300_65185301delinsAG NCBI36
NG_009288.1:g.12090_12091delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.292-2_292-1delinsAG MANE Select ENSP00000307188.9:n.292-2_292-1delinsAG
ENST00000362000.10:c.97-2_97-1delinsAG ENSP00000354710.6:n.97-2_97-1delinsAG
ENST00000380839.9:c.292-2_292-1delinsAG ENSP00000370219.4:n.292-2_292-1delinsAG
ENST00000395331.4:c.292-2_292-1delinsAG ENSP00000378740.3:n.292-2_292-1delinsAG
ENST00000395332.8:c.292-2_292-1delinsAG ENSP00000378741.3:n.292-2_292-1delinsAG
ENST00000671817.1:c.292-2_292-1delinsAG ENSP00000500462.1:n.292-2_292-1delinsAG
ENST00000672498.1:c.292-2_292-1delinsAG ENSP00000500227.1:n.292-2_292-1delinsAG
ENST00000672586.1:n.197-2_197-1delinsAG
ENST00000672676.1:n.462-2_462-1delinsAG
ENST00000673149.1:n.104-2_104-1delinsAG
ENST00000673350.1:n.540-2_540-1delinsAG
ENST00000673518.1:c.292-2_292-1delinsAG ENSP00000499889.1:n.292-2_292-1delinsAG
ENST00000673594.1:n.141-2_141-1delinsAG
ENST00000304874.13:c.292-2_292-1delinsAG ENSP00000307188.9:n.292-2_292-1delinsAG
ENST00000362000.9:c.97-2_97-1delinsAG ENSP00000354710.5:n.97-2_97-1delinsAG
ENST00000380839.8:c.292-2_292-1delinsAG ENSP00000370219.4:n.292-2_292-1delinsAG
ENST00000395331.3:c.292-2_292-1delinsAG ENSP00000378740.3:n.292-2_292-1delinsAG
ENST00000395332.7:c.292-2_292-1delinsAG ENSP00000378741.3:n.292-2_292-1delinsAG
ENST00000487982.5:n.358-2_358-1delinsAG
ENST00000496336.1:n.533-2_533-1delinsAG
NM_000048.3:c.292-2_292-1delinsAG NP_000039.2:n.292-2_292-1delinsAG
NM_001024943.1:c.292-2_292-1delinsAG NP_001020114.1:n.292-2_292-1delinsAG
NM_001024944.1:c.292-2_292-1delinsAG NP_001020115.1:n.292-2_292-1delinsAG
NM_001024946.1:c.292-2_292-1delinsAG NP_001020117.1:n.292-2_292-1delinsAG
NM_000048.4:c.292-2_292-1delinsAG MANE Select NP_000039.2:n.292-2_292-1delinsAG
NM_001024943.2:c.292-2_292-1delinsAG NP_001020114.1:n.292-2_292-1delinsAG
NM_001024944.2:c.292-2_292-1delinsAG NP_001020115.1:n.292-2_292-1delinsAG
NM_001024946.2:c.292-2_292-1delinsAG NP_001020117.1:n.292-2_292-1delinsAG