Canonical Allele Identifier: CA1713940736

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082986_66082987delinsGC , CM000669.2:g.66082986_66082987delinsGC	GRCh38
NC_000007.13:g.65547973_65547974delinsGC , CM000669.1:g.65547973_65547974delinsGC	GRCh37
NC_000007.12:g.65185408_65185409delinsGC	NCBI36
NG_009288.1:g.12198_12199delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.348+50_348+51delinsGC MANE Select	ENSP00000307188.9:n.348+50_348+51delinsGC
ENST00000362000.10:c.153+50_153+51delinsGC	ENSP00000354710.6:n.153+50_153+51delinsGC
ENST00000380839.9:c.348+50_348+51delinsGC	ENSP00000370219.4:n.348+50_348+51delinsGC
ENST00000395331.4:c.348+50_348+51delinsGC	ENSP00000378740.3:n.348+50_348+51delinsGC
ENST00000395332.8:c.348+50_348+51delinsGC	ENSP00000378741.3:n.348+50_348+51delinsGC
ENST00000671817.1:c.348+50_348+51delinsGC	ENSP00000500462.1:n.348+50_348+51delinsGC
ENST00000672498.1:c.348+50_348+51delinsGC	ENSP00000500227.1:n.348+50_348+51delinsGC
ENST00000672586.1:n.253+50_253+51delinsGC
ENST00000672676.1:n.518+50_518+51delinsGC
ENST00000673149.1:n.160+50_160+51delinsGC
ENST00000673350.1:n.596+50_596+51delinsGC
ENST00000673518.1:c.348+50_348+51delinsGC	ENSP00000499889.1:n.348+50_348+51delinsGC
ENST00000673594.1:n.197+50_197+51delinsGC
ENST00000304874.13:c.348+50_348+51delinsGC	ENSP00000307188.9:n.348+50_348+51delinsGC
ENST00000362000.9:c.153+50_153+51delinsGC	ENSP00000354710.5:n.153+50_153+51delinsGC
ENST00000380839.8:c.348+50_348+51delinsGC	ENSP00000370219.4:n.348+50_348+51delinsGC
ENST00000395331.3:c.348+50_348+51delinsGC	ENSP00000378740.3:n.348+50_348+51delinsGC
ENST00000395332.7:c.348+50_348+51delinsGC	ENSP00000378741.3:n.348+50_348+51delinsGC
ENST00000487982.5:n.414+50_414+51delinsGC
ENST00000496336.1:n.639_640delinsGC
NM_000048.3:c.348+50_348+51delinsGC	NP_000039.2:n.348+50_348+51delinsGC
NM_001024943.1:c.348+50_348+51delinsGC	NP_001020114.1:n.348+50_348+51delinsGC
NM_001024944.1:c.348+50_348+51delinsGC	NP_001020115.1:n.348+50_348+51delinsGC
NM_001024946.1:c.348+50_348+51delinsGC	NP_001020117.1:n.348+50_348+51delinsGC
NM_000048.4:c.348+50_348+51delinsGC MANE Select	NP_000039.2:n.348+50_348+51delinsGC
NM_001024943.2:c.348+50_348+51delinsGC	NP_001020114.1:n.348+50_348+51delinsGC
NM_001024944.2:c.348+50_348+51delinsGC	NP_001020115.1:n.348+50_348+51delinsGC
NM_001024946.2:c.348+50_348+51delinsGC	NP_001020117.1:n.348+50_348+51delinsGC