Canonical Allele Identifier: CA159931375

Gene: ASL

Linked Data

• ClinVar Variation Id: 1271303
• ClinVar RCV Id: RCV001681352
• dbSNP Id: rs60055215
• gnomAD v2: 7-65552230-C-CGT
• gnomAD v3: 7-66087243-C-CGT
• gnomAD v4: 7-66087243-C-CGT
• MyVariant Identifiers: chr7:g.65552238_65552239insGT (hg19) ; chr7:g.65552230_65552231insGT (hg19) ; chr7:g.66087251_66087252insGT (hg38) ; chr7:g.66087243_66087244insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087282_66087283dup , CM000669.2:g.66087282_66087283dup	GRCh38
NC_000007.13:g.65552269_65552270dup , CM000669.1:g.65552269_65552270dup	GRCh37
NC_000007.12:g.65189704_65189705dup	NCBI36
NG_009288.1:g.16494_16495dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.603-52_603-51dup MANE Select	ENSP00000307188.9:n.603-52_603-51dup
ENST00000362000.10:c.408-52_408-51dup	ENSP00000354710.6:n.408-52_408-51dup
ENST00000380839.9:c.525-52_525-51dup	ENSP00000370219.4:n.525-52_525-51dup
ENST00000395331.4:c.603-52_603-51dup	ENSP00000378740.3:n.603-52_603-51dup
ENST00000395332.8:c.603-52_603-51dup	ENSP00000378741.3:n.603-52_603-51dup
ENST00000671817.1:c.525-52_525-51dup	ENSP00000500462.1:n.525-52_525-51dup
ENST00000672498.1:c.447-447_447-446dup	ENSP00000500227.1:n.447-447_447-446dup
ENST00000672586.1:n.968_969dup
ENST00000672676.1:n.1233_1234dup
ENST00000673149.1:n.415-52_415-51dup
ENST00000673350.1:n.1311_1312dup
ENST00000673518.1:c.525-52_525-51dup	ENSP00000499889.1:n.525-52_525-51dup
ENST00000673594.1:n.452-52_452-51dup
ENST00000304874.13:c.603-52_603-51dup	ENSP00000307188.9:n.603-52_603-51dup
ENST00000362000.9:c.408-52_408-51dup	ENSP00000354710.5:n.408-52_408-51dup
ENST00000380839.8:c.525-52_525-51dup	ENSP00000370219.4:n.525-52_525-51dup
ENST00000395331.3:c.603-52_603-51dup	ENSP00000378740.3:n.603-52_603-51dup
ENST00000395332.7:c.603-52_603-51dup	ENSP00000378741.3:n.603-52_603-51dup
NM_000048.3:c.603-52_603-51dup	NP_000039.2:n.603-52_603-51dup
NM_001024943.1:c.603-52_603-51dup	NP_001020114.1:n.603-52_603-51dup
NM_001024944.1:c.603-52_603-51dup	NP_001020115.1:n.603-52_603-51dup
NM_001024946.1:c.525-52_525-51dup	NP_001020117.1:n.525-52_525-51dup
NM_000048.4:c.603-52_603-51dup MANE Select	NP_000039.2:n.603-52_603-51dup
NM_001024943.2:c.603-52_603-51dup	NP_001020114.1:n.603-52_603-51dup
NM_001024944.2:c.603-52_603-51dup	NP_001020115.1:n.603-52_603-51dup
NM_001024946.2:c.525-52_525-51dup	NP_001020117.1:n.525-52_525-51dup