Canonical Allele Identifier: CA1713940745

Gene: ASL

Linked Data

• dbSNP Id: rs1786554221
• gnomAD v4: 7-66082990-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082995dup , CM000669.2:g.66082995dup	GRCh38
NC_000007.13:g.65547982dup , CM000669.1:g.65547982dup	GRCh37
NC_000007.12:g.65185417dup	NCBI36
NG_009288.1:g.12207dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.348+59dup MANE Select	ENSP00000307188.9:n.348+59dup
ENST00000362000.10:c.153+59dup	ENSP00000354710.6:n.153+59dup
ENST00000380839.9:c.348+59dup	ENSP00000370219.4:n.348+59dup
ENST00000395331.4:c.348+59dup	ENSP00000378740.3:n.348+59dup
ENST00000395332.8:c.348+59dup	ENSP00000378741.3:n.348+59dup
ENST00000671817.1:c.348+59dup	ENSP00000500462.1:n.348+59dup
ENST00000672498.1:c.348+59dup	ENSP00000500227.1:n.348+59dup
ENST00000672586.1:n.253+59dup
ENST00000672676.1:n.518+59dup
ENST00000673149.1:n.160+59dup
ENST00000673350.1:n.596+59dup
ENST00000673518.1:c.348+59dup	ENSP00000499889.1:n.348+59dup
ENST00000673594.1:n.197+59dup
ENST00000304874.13:c.348+59dup	ENSP00000307188.9:n.348+59dup
ENST00000362000.9:c.153+59dup	ENSP00000354710.5:n.153+59dup
ENST00000380839.8:c.348+59dup	ENSP00000370219.4:n.348+59dup
ENST00000395331.3:c.348+59dup	ENSP00000378740.3:n.348+59dup
ENST00000395332.7:c.348+59dup	ENSP00000378741.3:n.348+59dup
ENST00000487982.5:n.414+59dup
ENST00000496336.1:n.648dup
NM_000048.3:c.348+59dup	NP_000039.2:n.348+59dup
NM_001024943.1:c.348+59dup	NP_001020114.1:n.348+59dup
NM_001024944.1:c.348+59dup	NP_001020115.1:n.348+59dup
NM_001024946.1:c.348+59dup	NP_001020117.1:n.348+59dup
NM_000048.4:c.348+59dup MANE Select	NP_000039.2:n.348+59dup
NM_001024943.2:c.348+59dup	NP_001020114.1:n.348+59dup
NM_001024944.2:c.348+59dup	NP_001020115.1:n.348+59dup
NM_001024946.2:c.348+59dup	NP_001020117.1:n.348+59dup