Canonical Allele Identifier: CA2683084227

Gene: ASL

Linked Data

• gnomAD v4: 7-66082354-GCTACCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082359_66082365del , CM000669.2:g.66082359_66082365del	GRCh38
NC_000007.13:g.65547346_65547352del , CM000669.1:g.65547346_65547352del	GRCh37
NC_000007.12:g.65184781_65184787del	NCBI36
NG_009288.1:g.11571_11577del

Transcript Alleles

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