Canonical Allele Identifier: CA1713928641

Gene: ASL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092656_66092670delinsACCATCAGGTACGGC , CM000669.2:g.66092656_66092670delinsACCATCAGGTACGGC	GRCh38
NC_000007.13:g.65557643_65557657delinsACCATCAGGTACGGC , CM000669.1:g.65557643_65557657delinsACCATCAGGTACGGC	GRCh37
NC_000007.12:g.65195078_65195092delinsACCATCAGGTACGGC	NCBI36
NG_009288.1:g.21868_21882delinsACCATCAGGTACGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1243_1250+7delinsACCATCAGGTACGGC
ENST00000362000.10:c.1048_1055+7delinsACCATCAGGTACGGC
ENST00000380839.9:c.1165_1172+7delinsACCATCAGGTACGGC
ENST00000395331.4:c.1183_1190+7delinsACCATCAGGTACGGC
ENST00000395332.8:c.1243_1250+7delinsACCATCAGGTACGGC
ENST00000488343.2:c.148-248_148-234delinsACCATCAGGTACGGC	ENSP00000500864.1:n.148-248_148-234delinsACCATCAGGTACGGC
ENST00000672498.1:c.*542_*556delinsACCATCAGGTACGGC	ENSP00000500227.1:n.*542_*556delinsACCATCAGGTACGGC
ENST00000672586.1:n.2002_2009+7delinsACCATCAGGTACGGC
ENST00000672676.1:n.2267_2274+7delinsACCATCAGGTACGGC
ENST00000673149.1:n.1055_1062+7delinsACCATCAGGTACGGC
ENST00000673350.1:n.3360_3367+7delinsACCATCAGGTACGGC
ENST00000673518.1:c.1165_1172+7delinsACCATCAGGTACGGC
ENST00000304874.13:c.1243_1250+7delinsACCATCAGGTACGGC
ENST00000380839.8:c.1165_1172+7delinsACCATCAGGTACGGC
ENST00000395331.3:c.1183_1190+7delinsACCATCAGGTACGGC
ENST00000395332.7:c.1243_1250+7delinsACCATCAGGTACGGC
ENST00000450043.2:c.556_563+7delinsACCATCAGGTACGGC
ENST00000464970.1:n.446_453+7delinsACCATCAGGTACGGC
ENST00000488343.1:n.148-248_148-234delinsACCATCAGGTACGGC
ENST00000493708.5:n.724_731+7delinsACCATCAGGTACGGC
NM_000048.3:c.1243_1250+7delinsACCATCAGGTACGGC
NM_001024943.1:c.1243_1250+7delinsACCATCAGGTACGGC
NM_001024944.1:c.1183_1190+7delinsACCATCAGGTACGGC
NM_001024946.1:c.1165_1172+7delinsACCATCAGGTACGGC
NM_000048.4:c.1243_1250+7delinsACCATCAGGTACGGC
NM_001024943.2:c.1243_1250+7delinsACCATCAGGTACGGC
NM_001024944.2:c.1183_1190+7delinsACCATCAGGTACGGC
NM_001024946.2:c.1165_1172+7delinsACCATCAGGTACGGC