Canonical Allele Identifier: CA2683085067

Gene: ASL

Linked Data

• gnomAD v4: 7-66089344-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089344_66089345insG , CM000669.2:g.66089344_66089345insG	GRCh38
NC_000007.13:g.65554331_65554332insG , CM000669.1:g.65554331_65554332insG	GRCh37
NC_000007.12:g.65191766_65191767insG	NCBI36
NG_009288.1:g.18556_18557insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.978+9_978+10insG MANE Select	ENSP00000307188.9:n.978+9_978+10insG
ENST00000362000.10:c.783+9_783+10insG	ENSP00000354710.6:n.783+9_783+10insG
ENST00000380839.9:c.900+9_900+10insG	ENSP00000370219.4:n.900+9_900+10insG
ENST00000395331.4:c.918+169_918+170insG	ENSP00000378740.3:n.918+169_918+170insG
ENST00000395332.8:c.978+9_978+10insG	ENSP00000378741.3:n.978+9_978+10insG
ENST00000488343.2:c.147+9_147+10insG	ENSP00000500864.1:n.147+9_147+10insG
ENST00000671817.1:c.900+9_900+10insG	ENSP00000500462.1:n.900+9_900+10insG
ENST00000672498.1:c.*277+9_*277+10insG	ENSP00000500227.1:n.*277+9_*277+10insG
ENST00000672586.1:n.1737+9_1737+10insG
ENST00000672676.1:n.2002+9_2002+10insG
ENST00000673149.1:n.790+9_790+10insG
ENST00000673350.1:n.3095+9_3095+10insG
ENST00000673518.1:c.900+9_900+10insG	ENSP00000499889.1:n.900+9_900+10insG
ENST00000304874.13:c.978+9_978+10insG	ENSP00000307188.9:n.978+9_978+10insG
ENST00000380839.8:c.900+9_900+10insG	ENSP00000370219.4:n.900+9_900+10insG
ENST00000395331.3:c.918+169_918+170insG	ENSP00000378740.3:n.918+169_918+170insG
ENST00000395332.7:c.978+9_978+10insG	ENSP00000378741.3:n.978+9_978+10insG
ENST00000450043.2:c.291+9_291+10insG	ENSP00000396527.2:n.291+9_291+10insG
ENST00000464970.1:n.97+9_97+10insG
ENST00000488343.1:n.147+9_147+10insG
ENST00000493708.5:n.459+9_459+10insG
NM_000048.3:c.978+9_978+10insG	NP_000039.2:n.978+9_978+10insG
NM_001024943.1:c.978+9_978+10insG	NP_001020114.1:n.978+9_978+10insG
NM_001024944.1:c.918+169_918+170insG	NP_001020115.1:n.918+169_918+170insG
NM_001024946.1:c.900+9_900+10insG	NP_001020117.1:n.900+9_900+10insG
NM_000048.4:c.978+9_978+10insG MANE Select	NP_000039.2:n.978+9_978+10insG
NM_001024943.2:c.978+9_978+10insG	NP_001020114.1:n.978+9_978+10insG
NM_001024944.2:c.918+169_918+170insG	NP_001020115.1:n.918+169_918+170insG
NM_001024946.2:c.900+9_900+10insG	NP_001020117.1:n.900+9_900+10insG