Canonical Allele Identifier: CA1713928470

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092585_66092586delinsCC , CM000669.2:g.66092585_66092586delinsCC	GRCh38
NC_000007.13:g.65557572_65557573delinsCC , CM000669.1:g.65557572_65557573delinsCC	GRCh37
NC_000007.12:g.65195007_65195008delinsCC	NCBI36
NG_009288.1:g.21797_21798delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1172_1173delinsCC MANE Select	ENSP00000307188.9:p.Ser391=
ENST00000362000.10:c.977_978delinsCC	ENSP00000354710.6:p.Ser326=
ENST00000380839.9:c.1094_1095delinsCC	ENSP00000370219.4:p.Ser365=
ENST00000395331.4:c.1112_1113delinsCC	ENSP00000378740.3:p.Ser371=
ENST00000395332.8:c.1172_1173delinsCC	ENSP00000378741.3:p.Ser391=
ENST00000488343.2:c.148-319_148-318delinsCC	ENSP00000500864.1:n.148-319_148-318delinsCC
ENST00000672498.1:c.*471_*472delinsCC	ENSP00000500227.1:n.*471_*472delinsCC
ENST00000672586.1:n.1931_1932delinsCC
ENST00000672676.1:n.2196_2197delinsCC
ENST00000673149.1:n.984_985delinsCC
ENST00000673350.1:n.3289_3290delinsCC
ENST00000673518.1:c.1094_1095delinsCC	ENSP00000499889.1:p.Ser365=
ENST00000304874.13:c.1172_1173delinsCC	ENSP00000307188.9:p.Ser391=
ENST00000380839.8:c.1094_1095delinsCC	ENSP00000370219.4:p.Ser365=
ENST00000395331.3:c.1112_1113delinsCC	ENSP00000378740.3:p.Ser371=
ENST00000395332.7:c.1172_1173delinsCC	ENSP00000378741.3:p.Ser391=
ENST00000450043.2:c.485_486delinsCC	ENSP00000396527.2:p.Ser162=
ENST00000464970.1:n.375_376delinsCC
ENST00000488343.1:n.148-319_148-318delinsCC
ENST00000493708.5:n.653_654delinsCC
NM_000048.3:c.1172_1173delinsCC	NP_000039.2:p.Ser391=
NM_001024943.1:c.1172_1173delinsCC	NP_001020114.1:p.Ser391=
NM_001024944.1:c.1112_1113delinsCC	NP_001020115.1:p.Ser371=
NM_001024946.1:c.1094_1095delinsCC	NP_001020117.1:p.Ser365=
NM_000048.4:c.1172_1173delinsCC MANE Select	NP_000039.2:p.Ser391=
NM_001024943.2:c.1172_1173delinsCC	NP_001020114.1:p.Ser391=
NM_001024944.2:c.1112_1113delinsCC	NP_001020115.1:p.Ser371=
NM_001024946.2:c.1094_1095delinsCC	NP_001020117.1:p.Ser365=