Canonical Allele Identifier: CA2683085654

Gene: ASL

Linked Data

• gnomAD v4: 7-66087280-G-GTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087283_66087284insATGT , CM000669.2:g.66087283_66087284insATGT	GRCh38
NC_000007.13:g.65552270_65552271insATGT , CM000669.1:g.65552270_65552271insATGT	GRCh37
NC_000007.12:g.65189705_65189706insATGT	NCBI36
NG_009288.1:g.16495_16496insATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.603-51_603-50insATGT MANE Select	ENSP00000307188.9:n.603-51_603-50insATGT
ENST00000362000.10:c.408-51_408-50insATGT	ENSP00000354710.6:n.408-51_408-50insATGT
ENST00000380839.9:c.525-51_525-50insATGT	ENSP00000370219.4:n.525-51_525-50insATGT
ENST00000395331.4:c.603-51_603-50insATGT	ENSP00000378740.3:n.603-51_603-50insATGT
ENST00000395332.8:c.603-51_603-50insATGT	ENSP00000378741.3:n.603-51_603-50insATGT
ENST00000671817.1:c.525-51_525-50insATGT	ENSP00000500462.1:n.525-51_525-50insATGT
ENST00000672498.1:c.447-446_447-445insATGT	ENSP00000500227.1:n.447-446_447-445insATGT
ENST00000672586.1:n.969_970insATGT
ENST00000672676.1:n.1234_1235insATGT
ENST00000673149.1:n.415-51_415-50insATGT
ENST00000673350.1:n.1312_1313insATGT
ENST00000673518.1:c.525-51_525-50insATGT	ENSP00000499889.1:n.525-51_525-50insATGT
ENST00000673594.1:n.452-51_452-50insATGT
ENST00000304874.13:c.603-51_603-50insATGT	ENSP00000307188.9:n.603-51_603-50insATGT
ENST00000362000.9:c.408-51_408-50insATGT	ENSP00000354710.5:n.408-51_408-50insATGT
ENST00000380839.8:c.525-51_525-50insATGT	ENSP00000370219.4:n.525-51_525-50insATGT
ENST00000395331.3:c.603-51_603-50insATGT	ENSP00000378740.3:n.603-51_603-50insATGT
ENST00000395332.7:c.603-51_603-50insATGT	ENSP00000378741.3:n.603-51_603-50insATGT
NM_000048.3:c.603-51_603-50insATGT	NP_000039.2:n.603-51_603-50insATGT
NM_001024943.1:c.603-51_603-50insATGT	NP_001020114.1:n.603-51_603-50insATGT
NM_001024944.1:c.603-51_603-50insATGT	NP_001020115.1:n.603-51_603-50insATGT
NM_001024946.1:c.525-51_525-50insATGT	NP_001020117.1:n.525-51_525-50insATGT
NM_000048.4:c.603-51_603-50insATGT MANE Select	NP_000039.2:n.603-51_603-50insATGT
NM_001024943.2:c.603-51_603-50insATGT	NP_001020114.1:n.603-51_603-50insATGT
NM_001024944.2:c.603-51_603-50insATGT	NP_001020115.1:n.603-51_603-50insATGT
NM_001024946.2:c.525-51_525-50insATGT	NP_001020117.1:n.525-51_525-50insATGT