Canonical Allele Identifier: CA918028830
Gene: ASL HGNC NCBI

Linked Data

dbSNP Id: rs1562737734

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66082460_66082461dup , CM000669.2:g.66082460_66082461dup GRCh38
NC_000007.13:g.65547447_65547448dup , CM000669.1:g.65547447_65547448dup GRCh37
NC_000007.12:g.65184882_65184883dup NCBI36
NG_009288.1:g.11672_11673dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.291+9_291+10dup MANE Select ENSP00000307188.9:n.291+9_291+10dup
ENST00000362000.10:c.96+9_96+10dup ENSP00000354710.6:n.96+9_96+10dup
ENST00000380839.9:c.291+9_291+10dup ENSP00000370219.4:n.291+9_291+10dup
ENST00000395331.4:c.291+9_291+10dup ENSP00000378740.3:n.291+9_291+10dup
ENST00000395332.8:c.291+9_291+10dup ENSP00000378741.3:n.291+9_291+10dup
ENST00000671817.1:c.291+9_291+10dup ENSP00000500462.1:n.291+9_291+10dup
ENST00000672498.1:c.291+9_291+10dup ENSP00000500227.1:n.291+9_291+10dup
ENST00000672586.1:n.196+9_196+10dup
ENST00000672676.1:n.461+9_461+10dup
ENST00000673350.1:n.539+9_539+10dup
ENST00000673518.1:c.291+9_291+10dup ENSP00000499889.1:n.291+9_291+10dup
ENST00000673594.1:n.140+9_140+10dup
ENST00000304874.13:c.291+9_291+10dup ENSP00000307188.9:n.291+9_291+10dup
ENST00000362000.9:c.96+9_96+10dup ENSP00000354710.5:n.96+9_96+10dup
ENST00000380839.8:c.291+9_291+10dup ENSP00000370219.4:n.291+9_291+10dup
ENST00000395331.3:c.291+9_291+10dup ENSP00000378740.3:n.291+9_291+10dup
ENST00000395332.7:c.291+9_291+10dup ENSP00000378741.3:n.291+9_291+10dup
ENST00000487982.5:n.357+9_357+10dup
ENST00000496336.1:n.532+9_532+10dup
NM_000048.3:c.291+9_291+10dup NP_000039.2:n.291+9_291+10dup
NM_001024943.1:c.291+9_291+10dup NP_001020114.1:n.291+9_291+10dup
NM_001024944.1:c.291+9_291+10dup NP_001020115.1:n.291+9_291+10dup
NM_001024946.1:c.291+9_291+10dup NP_001020117.1:n.291+9_291+10dup
NM_000048.4:c.291+9_291+10dup MANE Select NP_000039.2:n.291+9_291+10dup
NM_001024943.2:c.291+9_291+10dup NP_001020114.1:n.291+9_291+10dup
NM_001024944.2:c.291+9_291+10dup NP_001020115.1:n.291+9_291+10dup
NM_001024946.2:c.291+9_291+10dup NP_001020117.1:n.291+9_291+10dup