Canonical Allele Identifier: CA1713927593

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092103_66092104delinsCA , CM000669.2:g.66092103_66092104delinsCA	GRCh38
NC_000007.13:g.65557090_65557091delinsCA , CM000669.1:g.65557090_65557091delinsCA	GRCh37
NC_000007.12:g.65194525_65194526delinsCA	NCBI36
NG_009288.1:g.21315_21316delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1143+17_1143+18delinsCA MANE Select	ENSP00000307188.9:n.1143+17_1143+18delinsCA
ENST00000362000.10:c.948+17_948+18delinsCA	ENSP00000354710.6:n.948+17_948+18delinsCA
ENST00000380839.9:c.1065+17_1065+18delinsCA	ENSP00000370219.4:n.1065+17_1065+18delinsCA
ENST00000395331.4:c.1083+17_1083+18delinsCA	ENSP00000378740.3:n.1083+17_1083+18delinsCA
ENST00000395332.8:c.1143+17_1143+18delinsCA	ENSP00000378741.3:n.1143+17_1143+18delinsCA
ENST00000488343.2:c.148-801_148-800delinsCA	ENSP00000500864.1:n.148-801_148-800delinsCA
ENST00000672498.1:c.*442+17_*442+18delinsCA	ENSP00000500227.1:n.*442+17_*442+18delinsCA
ENST00000672586.1:n.1902+17_1902+18delinsCA
ENST00000672676.1:n.2167+17_2167+18delinsCA
ENST00000673149.1:n.955+17_955+18delinsCA
ENST00000673350.1:n.3260+17_3260+18delinsCA
ENST00000673518.1:c.1065+17_1065+18delinsCA	ENSP00000499889.1:n.1065+17_1065+18delinsCA
ENST00000304874.13:c.1143+17_1143+18delinsCA	ENSP00000307188.9:n.1143+17_1143+18delinsCA
ENST00000380839.8:c.1065+17_1065+18delinsCA	ENSP00000370219.4:n.1065+17_1065+18delinsCA
ENST00000395331.3:c.1083+17_1083+18delinsCA	ENSP00000378740.3:n.1083+17_1083+18delinsCA
ENST00000395332.7:c.1143+17_1143+18delinsCA	ENSP00000378741.3:n.1143+17_1143+18delinsCA
ENST00000450043.2:c.456+17_456+18delinsCA	ENSP00000396527.2:n.456+17_456+18delinsCA
ENST00000464970.1:n.346+17_346+18delinsCA
ENST00000488343.1:n.148-801_148-800delinsCA
ENST00000493708.5:n.624+17_624+18delinsCA
NM_000048.3:c.1143+17_1143+18delinsCA	NP_000039.2:n.1143+17_1143+18delinsCA
NM_001024943.1:c.1143+17_1143+18delinsCA	NP_001020114.1:n.1143+17_1143+18delinsCA
NM_001024944.1:c.1083+17_1083+18delinsCA	NP_001020115.1:n.1083+17_1083+18delinsCA
NM_001024946.1:c.1065+17_1065+18delinsCA	NP_001020117.1:n.1065+17_1065+18delinsCA
NM_000048.4:c.1143+17_1143+18delinsCA MANE Select	NP_000039.2:n.1143+17_1143+18delinsCA
NM_001024943.2:c.1143+17_1143+18delinsCA	NP_001020114.1:n.1143+17_1143+18delinsCA
NM_001024944.2:c.1083+17_1083+18delinsCA	NP_001020115.1:n.1083+17_1083+18delinsCA
NM_001024946.2:c.1065+17_1065+18delinsCA	NP_001020117.1:n.1065+17_1065+18delinsCA