Canonical Allele Identifier: CA2580068491
Gene: XPC HGNC NCBI

Linked Data

ClinVar Variation Id: 1810492
ClinVar RCV Id: RCV002509979

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148739_14148743delinsCGGTT , CM000665.2:g.14148739_14148743delinsCGGTT GRCh38
NC_000003.11:g.14190239_14190243delinsCGGTT , CM000665.1:g.14190239_14190243delinsCGGTT GRCh37
NC_000003.10:g.14165240_14165244delinsCGGTT NCBI36
NG_011763.1:g.34930_34934delinsAACCG , LRG_472:g.34930_34934delinsAACCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2251-12_2251-8delinsAACCG MANE Select ENSP00000285021.8:n.2251-12_2251-8delinsAACCG
ENST00000285021.11:c.2251-12_2251-8delinsAACCG ENSP00000285021.7:n.2251-12_2251-8delinsAACCG
ENST00000427795.2:n.116-12_116-8delinsAACCG
ENST00000476581.6:c.*1704-12_*1704-8delinsAACCG ENSP00000424548.1:n.*1704-12_*1704-8delinsAACCG
NM_004628.4:c.2251-12_2251-8delinsAACCG , LRG_472t1:c.2251-12_2251-8delinsAACCG NP_004619.3:n.2251-12_2251-8delinsAACCG
NR_027299.1:n.2231-12_2231-8delinsAACCG
XM_011534092.1:c.2251-12_2251-8delinsAACCG XP_011532394.1:n.2251-12_2251-8delinsAACCG
NM_001354726.1:c.1672-12_1672-8delinsAACCG NP_001341655.1:n.1672-12_1672-8delinsAACCG
NM_001354727.1:c.2245-12_2245-8delinsAACCG NP_001341656.1:n.2245-12_2245-8delinsAACCG
NM_001354729.1:c.2233-12_2233-8delinsAACCG NP_001341658.1:n.2233-12_2233-8delinsAACCG
NM_001354730.1:c.2005-12_2005-8delinsAACCG NP_001341659.1:n.2005-12_2005-8delinsAACCG
NR_148950.1:n.2194-12_2194-8delinsAACCG
NR_148951.1:n.2070-12_2070-8delinsAACCG
XR_001740256.2:n.2284-12_2284-8delinsAACCG
XR_002959580.1:n.2284-12_2284-8delinsAACCG
XR_002959581.1:n.3901-12_3901-8delinsAACCG
NM_001354727.2:c.2245-12_2245-8delinsAACCG NP_001341656.1:n.2245-12_2245-8delinsAACCG
NM_004628.5:c.2251-12_2251-8delinsAACCG MANE Select NP_004619.3:n.2251-12_2251-8delinsAACCG
NR_148950.2:n.2123-12_2123-8delinsAACCG
NR_148951.2:n.1999-12_1999-8delinsAACCG
NM_001354726.2:c.1672-12_1672-8delinsAACCG NP_001341655.1:n.1672-12_1672-8delinsAACCG
NM_001354729.2:c.2233-12_2233-8delinsAACCG NP_001341658.1:n.2233-12_2233-8delinsAACCG
NM_001354730.2:c.2005-12_2005-8delinsAACCG NP_001341659.1:n.2005-12_2005-8delinsAACCG