Canonical Allele Identifier: CA1713928688

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092678_66092679delinsCT , CM000669.2:g.66092678_66092679delinsCT	GRCh38
NC_000007.13:g.65557665_65557666delinsCT , CM000669.1:g.65557665_65557666delinsCT	GRCh37
NC_000007.12:g.65195100_65195101delinsCT	NCBI36
NG_009288.1:g.21890_21891delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1250+15_1250+16delinsCT MANE Select	ENSP00000307188.9:n.1250+15_1250+16delinsCT
ENST00000362000.10:c.1055+15_1055+16delinsCT	ENSP00000354710.6:n.1055+15_1055+16delinsCT
ENST00000380839.9:c.1172+15_1172+16delinsCT	ENSP00000370219.4:n.1172+15_1172+16delinsCT
ENST00000395331.4:c.1190+15_1190+16delinsCT	ENSP00000378740.3:n.1190+15_1190+16delinsCT
ENST00000395332.8:c.1250+15_1250+16delinsCT	ENSP00000378741.3:n.1250+15_1250+16delinsCT
ENST00000488343.2:c.148-226_148-225delinsCT	ENSP00000500864.1:n.148-226_148-225delinsCT
ENST00000672498.1:c.*564_*565delinsCT	ENSP00000500227.1:n.*564_*565delinsCT
ENST00000672586.1:n.2009+15_2009+16delinsCT
ENST00000672676.1:n.2274+15_2274+16delinsCT
ENST00000673149.1:n.1062+15_1062+16delinsCT
ENST00000673350.1:n.3367+15_3367+16delinsCT
ENST00000673518.1:c.1172+15_1172+16delinsCT	ENSP00000499889.1:n.1172+15_1172+16delinsCT
ENST00000304874.13:c.1250+15_1250+16delinsCT	ENSP00000307188.9:n.1250+15_1250+16delinsCT
ENST00000380839.8:c.1172+15_1172+16delinsCT	ENSP00000370219.4:n.1172+15_1172+16delinsCT
ENST00000395331.3:c.1190+15_1190+16delinsCT	ENSP00000378740.3:n.1190+15_1190+16delinsCT
ENST00000395332.7:c.1250+15_1250+16delinsCT	ENSP00000378741.3:n.1250+15_1250+16delinsCT
ENST00000450043.2:c.563+15_563+16delinsCT	ENSP00000396527.2:n.563+15_563+16delinsCT
ENST00000464970.1:n.453+15_453+16delinsCT
ENST00000488343.1:n.148-226_148-225delinsCT
ENST00000493708.5:n.731+15_731+16delinsCT
NM_000048.3:c.1250+15_1250+16delinsCT	NP_000039.2:n.1250+15_1250+16delinsCT
NM_001024943.1:c.1250+15_1250+16delinsCT	NP_001020114.1:n.1250+15_1250+16delinsCT
NM_001024944.1:c.1190+15_1190+16delinsCT	NP_001020115.1:n.1190+15_1190+16delinsCT
NM_001024946.1:c.1172+15_1172+16delinsCT	NP_001020117.1:n.1172+15_1172+16delinsCT
NM_000048.4:c.1250+15_1250+16delinsCT MANE Select	NP_000039.2:n.1250+15_1250+16delinsCT
NM_001024943.2:c.1250+15_1250+16delinsCT	NP_001020114.1:n.1250+15_1250+16delinsCT
NM_001024944.2:c.1190+15_1190+16delinsCT	NP_001020115.1:n.1190+15_1190+16delinsCT
NM_001024946.2:c.1172+15_1172+16delinsCT	NP_001020117.1:n.1172+15_1172+16delinsCT