Canonical Allele Identifier: CA2586971803
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148732_14148737delinsGTGTGG , CM000665.2:g.14148732_14148737delinsGTGTGG GRCh38
NC_000003.11:g.14190232_14190237delinsGTGTGG , CM000665.1:g.14190232_14190237delinsGTGTGG GRCh37
NC_000003.10:g.14165233_14165238delinsGTGTGG NCBI36
NG_011763.1:g.34936_34941delinsCCACAC , LRG_472:g.34936_34941delinsCCACAC

Transcript Alleles

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