Canonical Allele Identifier: CA2776240002

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087844_66087845insGA , CM000669.2:g.66087844_66087845insGA	GRCh38
NC_000007.13:g.65552831_65552832insGA , CM000669.1:g.65552831_65552832insGA	GRCh37
NC_000007.12:g.65190266_65190267insGA	NCBI36
NG_009288.1:g.17056_17057insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.718+53_718+54insGA MANE Select	ENSP00000307188.9:n.718+53_718+54insGA
ENST00000362000.10:c.523+53_523+54insGA	ENSP00000354710.6:n.523+53_523+54insGA
ENST00000380839.9:c.640+53_640+54insGA	ENSP00000370219.4:n.640+53_640+54insGA
ENST00000395331.4:c.718+53_718+54insGA	ENSP00000378740.3:n.718+53_718+54insGA
ENST00000395332.8:c.718+53_718+54insGA	ENSP00000378741.3:n.718+53_718+54insGA
ENST00000671817.1:c.640+53_640+54insGA	ENSP00000500462.1:n.640+53_640+54insGA
ENST00000672498.1:c.*17+53_*17+54insGA	ENSP00000500227.1:n.*17+53_*17+54insGA
ENST00000672586.1:n.1477+53_1477+54insGA
ENST00000672676.1:n.1742+53_1742+54insGA
ENST00000673149.1:n.530+53_530+54insGA
ENST00000673350.1:n.1873_1874insGA
ENST00000673518.1:c.640+53_640+54insGA	ENSP00000499889.1:n.640+53_640+54insGA
ENST00000304874.13:c.718+53_718+54insGA	ENSP00000307188.9:n.718+53_718+54insGA
ENST00000362000.9:c.523+53_523+54insGA	ENSP00000354710.5:n.523+53_523+54insGA
ENST00000380839.8:c.640+53_640+54insGA	ENSP00000370219.4:n.640+53_640+54insGA
ENST00000395331.3:c.718+53_718+54insGA	ENSP00000378740.3:n.718+53_718+54insGA
ENST00000395332.7:c.718+53_718+54insGA	ENSP00000378741.3:n.718+53_718+54insGA
ENST00000450043.2:c.31+53_31+54insGA	ENSP00000396527.2:n.31+53_31+54insGA
ENST00000493708.5:n.99+53_99+54insGA
NM_000048.3:c.718+53_718+54insGA	NP_000039.2:n.718+53_718+54insGA
NM_001024943.1:c.718+53_718+54insGA	NP_001020114.1:n.718+53_718+54insGA
NM_001024944.1:c.718+53_718+54insGA	NP_001020115.1:n.718+53_718+54insGA
NM_001024946.1:c.640+53_640+54insGA	NP_001020117.1:n.640+53_640+54insGA
NM_000048.4:c.718+53_718+54insGA MANE Select	NP_000039.2:n.718+53_718+54insGA
NM_001024943.2:c.718+53_718+54insGA	NP_001020114.1:n.718+53_718+54insGA
NM_001024944.2:c.718+53_718+54insGA	NP_001020115.1:n.718+53_718+54insGA
NM_001024946.2:c.640+53_640+54insGA	NP_001020117.1:n.640+53_640+54insGA