Canonical Allele Identifier: CA1713939373
Gene: ASL HGNC NCBI

Linked Data

dbSNP Id: rs1786526704

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66082277_66082280del , CM000669.2:g.66082277_66082280del GRCh38
NC_000007.13:g.65547264_65547267del , CM000669.1:g.65547264_65547267del GRCh37
NC_000007.12:g.65184699_65184702del NCBI36
NG_009288.1:g.11489_11492del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.208-91_208-88del MANE Select ENSP00000307188.9:n.208-91_208-88del
ENST00000362000.10:c.13-91_13-88del ENSP00000354710.6:n.13-91_13-88del
ENST00000380839.9:c.208-91_208-88del ENSP00000370219.4:n.208-91_208-88del
ENST00000395331.4:c.208-91_208-88del ENSP00000378740.3:n.208-91_208-88del
ENST00000395332.8:c.208-91_208-88del ENSP00000378741.3:n.208-91_208-88del
ENST00000671817.1:c.208-91_208-88del ENSP00000500462.1:n.208-91_208-88del
ENST00000672498.1:c.208-91_208-88del ENSP00000500227.1:n.208-91_208-88del
ENST00000672586.1:n.113-91_113-88del
ENST00000672676.1:n.378-91_378-88del
ENST00000673350.1:n.456-91_456-88del
ENST00000673518.1:c.208-91_208-88del ENSP00000499889.1:n.208-91_208-88del
ENST00000673594.1:n.57-91_57-88del
ENST00000304874.13:c.208-91_208-88del ENSP00000307188.9:n.208-91_208-88del
ENST00000362000.9:c.13-91_13-88del ENSP00000354710.5:n.13-91_13-88del
ENST00000380839.8:c.208-91_208-88del ENSP00000370219.4:n.208-91_208-88del
ENST00000395331.3:c.208-91_208-88del ENSP00000378740.3:n.208-91_208-88del
ENST00000395332.7:c.208-91_208-88del ENSP00000378741.3:n.208-91_208-88del
ENST00000487982.5:n.274-91_274-88del
ENST00000496336.1:n.449-91_449-88del
NM_000048.3:c.208-91_208-88del NP_000039.2:n.208-91_208-88del
NM_001024943.1:c.208-91_208-88del NP_001020114.1:n.208-91_208-88del
NM_001024944.1:c.208-91_208-88del NP_001020115.1:n.208-91_208-88del
NM_001024946.1:c.208-91_208-88del NP_001020117.1:n.208-91_208-88del
NM_000048.4:c.208-91_208-88del MANE Select NP_000039.2:n.208-91_208-88del
NM_001024943.2:c.208-91_208-88del NP_001020114.1:n.208-91_208-88del
NM_001024944.2:c.208-91_208-88del NP_001020115.1:n.208-91_208-88del
NM_001024946.2:c.208-91_208-88del NP_001020117.1:n.208-91_208-88del