Canonical Allele Identifier: CA2683084443

Gene: ASL

Linked Data

• gnomAD v4: 7-66083061-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66083067_66083069del , CM000669.2:g.66083067_66083069del	GRCh38
NC_000007.13:g.65548054_65548056del , CM000669.1:g.65548054_65548056del	GRCh37
NC_000007.12:g.65185489_65185491del	NCBI36
NG_009288.1:g.12279_12281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.349-10_349-8del MANE Select	ENSP00000307188.9:n.349-10_349-8del
ENST00000362000.10:c.154-10_154-8del	ENSP00000354710.6:n.154-10_154-8del
ENST00000380839.9:c.349-10_349-8del	ENSP00000370219.4:n.349-10_349-8del
ENST00000395331.4:c.349-10_349-8del	ENSP00000378740.3:n.349-10_349-8del
ENST00000395332.8:c.349-10_349-8del	ENSP00000378741.3:n.349-10_349-8del
ENST00000671817.1:c.349-10_349-8del	ENSP00000500462.1:n.349-10_349-8del
ENST00000672498.1:c.349-10_349-8del	ENSP00000500227.1:n.349-10_349-8del
ENST00000672586.1:n.254-10_254-8del
ENST00000672676.1:n.519-10_519-8del
ENST00000673149.1:n.161-10_161-8del
ENST00000673350.1:n.597-10_597-8del
ENST00000673518.1:c.349-10_349-8del	ENSP00000499889.1:n.349-10_349-8del
ENST00000673594.1:n.198-10_198-8del
ENST00000304874.13:c.349-10_349-8del	ENSP00000307188.9:n.349-10_349-8del
ENST00000362000.9:c.154-10_154-8del	ENSP00000354710.5:n.154-10_154-8del
ENST00000380839.8:c.349-10_349-8del	ENSP00000370219.4:n.349-10_349-8del
ENST00000395331.3:c.349-10_349-8del	ENSP00000378740.3:n.349-10_349-8del
ENST00000395332.7:c.349-10_349-8del	ENSP00000378741.3:n.349-10_349-8del
ENST00000487982.5:n.415-10_415-8del
ENST00000496336.1:n.720_722del
NM_000048.3:c.349-10_349-8del	NP_000039.2:n.349-10_349-8del
NM_001024943.1:c.349-10_349-8del	NP_001020114.1:n.349-10_349-8del
NM_001024944.1:c.349-10_349-8del	NP_001020115.1:n.349-10_349-8del
NM_001024946.1:c.349-10_349-8del	NP_001020117.1:n.349-10_349-8del
NM_000048.4:c.349-10_349-8del MANE Select	NP_000039.2:n.349-10_349-8del
NM_001024943.2:c.349-10_349-8del	NP_001020114.1:n.349-10_349-8del
NM_001024944.2:c.349-10_349-8del	NP_001020115.1:n.349-10_349-8del
NM_001024946.2:c.349-10_349-8del	NP_001020117.1:n.349-10_349-8del