Canonical Allele Identifier: CA658821790

Gene: ASL

Linked Data

• ClinVar Variation Id: 555741
• ClinVar RCV Id: RCV000671616
• dbSNP Id: rs1554328381
• MyVariant Identifiers: chr7:g.66092662_66092675del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092662_66092675del , CM000669.2:g.66092662_66092675del	GRCh38
NC_000007.13:g.65557649_65557662del , CM000669.1:g.65557649_65557662del	GRCh37
NC_000007.12:g.65195084_65195097del	NCBI36
NG_009288.1:g.21874_21887del

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.1249_1250+12del
ENST00000362000.10:c.1054_1055+12del
ENST00000380839.9:c.1171_1172+12del
ENST00000395331.4:c.1189_1190+12del
ENST00000395332.8:c.1249_1250+12del
ENST00000488343.2:c.148-242_148-229del	ENSP00000500864.1:n.148-242_148-229del
ENST00000672498.1:c.*548_*561del	ENSP00000500227.1:n.*548_*561del
ENST00000672586.1:n.2008_2009+12del
ENST00000672676.1:n.2273_2274+12del
ENST00000673149.1:n.1061_1062+12del
ENST00000673350.1:n.3366_3367+12del
ENST00000673518.1:c.1171_1172+12del
ENST00000304874.13:c.1249_1250+12del
ENST00000380839.8:c.1171_1172+12del
ENST00000395331.3:c.1189_1190+12del
ENST00000395332.7:c.1249_1250+12del
ENST00000450043.2:c.562_563+12del
ENST00000464970.1:n.452_453+12del
ENST00000488343.1:n.148-242_148-229del
ENST00000493708.5:n.730_731+12del
NM_000048.3:c.1249_1250+12del
NM_001024943.1:c.1249_1250+12del
NM_001024944.1:c.1189_1190+12del
NM_001024946.1:c.1171_1172+12del
NM_000048.4:c.1249_1250+12del
NM_001024943.2:c.1249_1250+12del
NM_001024944.2:c.1189_1190+12del
NM_001024946.2:c.1171_1172+12del