Canonical Allele Identifier: CA2683086809

Gene: ASL

Linked Data

• gnomAD v4: 7-66092232-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092232_66092233insTG , CM000669.2:g.66092232_66092233insTG	GRCh38
NC_000007.13:g.65557219_65557220insTG , CM000669.1:g.65557219_65557220insTG	GRCh37
NC_000007.12:g.65194654_65194655insTG	NCBI36
NG_009288.1:g.21444_21445insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1143+146_1143+147insTG MANE Select	ENSP00000307188.9:n.1143+146_1143+147insTG
ENST00000362000.10:c.948+146_948+147insTG	ENSP00000354710.6:n.948+146_948+147insTG
ENST00000380839.9:c.1065+146_1065+147insTG	ENSP00000370219.4:n.1065+146_1065+147insTG
ENST00000395331.4:c.1083+146_1083+147insTG	ENSP00000378740.3:n.1083+146_1083+147insTG
ENST00000395332.8:c.1143+146_1143+147insTG	ENSP00000378741.3:n.1143+146_1143+147insTG
ENST00000488343.2:c.148-672_148-671insTG	ENSP00000500864.1:n.148-672_148-671insTG
ENST00000672498.1:c.*442+146_*442+147insTG	ENSP00000500227.1:n.*442+146_*442+147insTG
ENST00000672586.1:n.1902+146_1902+147insTG
ENST00000672676.1:n.2167+146_2167+147insTG
ENST00000673149.1:n.955+146_955+147insTG
ENST00000673350.1:n.3260+146_3260+147insTG
ENST00000673518.1:c.1065+146_1065+147insTG	ENSP00000499889.1:n.1065+146_1065+147insTG
ENST00000304874.13:c.1143+146_1143+147insTG	ENSP00000307188.9:n.1143+146_1143+147insTG
ENST00000380839.8:c.1065+146_1065+147insTG	ENSP00000370219.4:n.1065+146_1065+147insTG
ENST00000395331.3:c.1083+146_1083+147insTG	ENSP00000378740.3:n.1083+146_1083+147insTG
ENST00000395332.7:c.1143+146_1143+147insTG	ENSP00000378741.3:n.1143+146_1143+147insTG
ENST00000450043.2:c.456+146_456+147insTG	ENSP00000396527.2:n.456+146_456+147insTG
ENST00000464970.1:n.346+146_346+147insTG
ENST00000488343.1:n.148-672_148-671insTG
ENST00000493708.5:n.624+146_624+147insTG
NM_000048.3:c.1143+146_1143+147insTG	NP_000039.2:n.1143+146_1143+147insTG
NM_001024943.1:c.1143+146_1143+147insTG	NP_001020114.1:n.1143+146_1143+147insTG
NM_001024944.1:c.1083+146_1083+147insTG	NP_001020115.1:n.1083+146_1083+147insTG
NM_001024946.1:c.1065+146_1065+147insTG	NP_001020117.1:n.1065+146_1065+147insTG
NM_000048.4:c.1143+146_1143+147insTG MANE Select	NP_000039.2:n.1143+146_1143+147insTG
NM_001024943.2:c.1143+146_1143+147insTG	NP_001020114.1:n.1143+146_1143+147insTG
NM_001024944.2:c.1083+146_1083+147insTG	NP_001020115.1:n.1083+146_1083+147insTG
NM_001024946.2:c.1065+146_1065+147insTG	NP_001020117.1:n.1065+146_1065+147insTG