Canonical Allele Identifier: CA507662

Gene: ISG15

Linked Data

• ClinVar Variation Id: 1948866
• ClinVar RCV Id: RCV002668071
• dbSNP Id: rs758781783
• ExAC: 1:949645 C / CT
• gnomAD v2: 1-949645-C-CT
• gnomAD v3: 1-1014265-C-CT
• gnomAD v4: 1-1014265-C-CT
• MyVariant Identifiers: chr1:g.949645_949646insT (hg19) ; chr1:g.1014265_1014266insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1014266dup , CM000663.2:g.1014266dup	GRCh38
NC_000001.10:g.949646dup , CM000663.1:g.949646dup	GRCh37
NC_000001.9:g.939509dup	NCBI36
NG_033033.1:g.5800dup
NG_033033.2:g.18129dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624697.4:c.262dup	ENSP00000485643.1:p.Tyr88LeufsTer?
ENST00000649529.1:c.286dup MANE Select	ENSP00000496832.1:p.Tyr96LeufsTer?
ENST00000379389.4:c.286dup	ENSP00000368699.4:p.Tyr96LeufsTer?
ENST00000624652.1:c.262dup	ENSP00000485313.1:p.Tyr88LeufsTer?
ENST00000624697.3:c.262dup	ENSP00000485643.1:p.Tyr88LeufsTer?
NM_005101.3:c.286dup	NP_005092.1:p.Tyr96LeufsTer?
NM_005101.4:c.286dup MANE Select	NP_005092.1:p.Tyr96LeufsTer?