Canonical Allele Identifier: CA1713927978

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092294_66092296delinsTAA , CM000669.2:g.66092294_66092296delinsTAA	GRCh38
NC_000007.13:g.65557281_65557283delinsTAA , CM000669.1:g.65557281_65557283delinsTAA	GRCh37
NC_000007.12:g.65194716_65194718delinsTAA	NCBI36
NG_009288.1:g.21506_21508delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1143+208_1143+210delinsTAA MANE Select	ENSP00000307188.9:n.1143+208_1143+210delinsTAA
ENST00000362000.10:c.948+208_948+210delinsTAA	ENSP00000354710.6:n.948+208_948+210delinsTAA
ENST00000380839.9:c.1065+208_1065+210delinsTAA	ENSP00000370219.4:n.1065+208_1065+210delinsTAA
ENST00000395331.4:c.1083+208_1083+210delinsTAA	ENSP00000378740.3:n.1083+208_1083+210delinsTAA
ENST00000395332.8:c.1143+208_1143+210delinsTAA	ENSP00000378741.3:n.1143+208_1143+210delinsTAA
ENST00000488343.2:c.148-610_148-608delinsTAA	ENSP00000500864.1:n.148-610_148-608delinsTAA
ENST00000672498.1:c.*442+208_*442+210delinsTAA	ENSP00000500227.1:n.*442+208_*442+210delinsTAA
ENST00000672586.1:n.1902+208_1902+210delinsTAA
ENST00000672676.1:n.2167+208_2167+210delinsTAA
ENST00000673149.1:n.955+208_955+210delinsTAA
ENST00000673350.1:n.3260+208_3260+210delinsTAA
ENST00000673518.1:c.1065+208_1065+210delinsTAA	ENSP00000499889.1:n.1065+208_1065+210delinsTAA
ENST00000304874.13:c.1143+208_1143+210delinsTAA	ENSP00000307188.9:n.1143+208_1143+210delinsTAA
ENST00000380839.8:c.1065+208_1065+210delinsTAA	ENSP00000370219.4:n.1065+208_1065+210delinsTAA
ENST00000395331.3:c.1083+208_1083+210delinsTAA	ENSP00000378740.3:n.1083+208_1083+210delinsTAA
ENST00000395332.7:c.1143+208_1143+210delinsTAA	ENSP00000378741.3:n.1143+208_1143+210delinsTAA
ENST00000450043.2:c.456+208_456+210delinsTAA	ENSP00000396527.2:n.456+208_456+210delinsTAA
ENST00000464970.1:n.346+208_346+210delinsTAA
ENST00000488343.1:n.148-610_148-608delinsTAA
ENST00000493708.5:n.624+208_624+210delinsTAA
NM_000048.3:c.1143+208_1143+210delinsTAA	NP_000039.2:n.1143+208_1143+210delinsTAA
NM_001024943.1:c.1143+208_1143+210delinsTAA	NP_001020114.1:n.1143+208_1143+210delinsTAA
NM_001024944.1:c.1083+208_1083+210delinsTAA	NP_001020115.1:n.1083+208_1083+210delinsTAA
NM_001024946.1:c.1065+208_1065+210delinsTAA	NP_001020117.1:n.1065+208_1065+210delinsTAA
NM_000048.4:c.1143+208_1143+210delinsTAA MANE Select	NP_000039.2:n.1143+208_1143+210delinsTAA
NM_001024943.2:c.1143+208_1143+210delinsTAA	NP_001020114.1:n.1143+208_1143+210delinsTAA
NM_001024944.2:c.1083+208_1083+210delinsTAA	NP_001020115.1:n.1083+208_1083+210delinsTAA
NM_001024946.2:c.1065+208_1065+210delinsTAA	NP_001020117.1:n.1065+208_1065+210delinsTAA