Canonical Allele Identifier: CA1346950436
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148518_14148519delinsTC , CM000665.2:g.14148518_14148519delinsTC GRCh38
NC_000003.11:g.14190018_14190019delinsTC , CM000665.1:g.14190018_14190019delinsTC GRCh37
NC_000003.10:g.14165019_14165020delinsTC NCBI36
NG_011763.1:g.35154_35155delinsGA , LRG_472:g.35154_35155delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2420+43_2420+44delinsGA MANE Select ENSP00000285021.8:n.2420+43_2420+44delinsGA
ENST00000285021.11:c.2420+43_2420+44delinsGA ENSP00000285021.7:n.2420+43_2420+44delinsGA
ENST00000427795.2:n.285+43_285+44delinsGA
ENST00000476581.6:c.*1873+43_*1873+44delinsGA ENSP00000424548.1:n.*1873+43_*1873+44delinsGA
NM_004628.4:c.2420+43_2420+44delinsGA , LRG_472t1:c.2420+43_2420+44delinsGA NP_004619.3:n.2420+43_2420+44delinsGA
NR_027299.1:n.2400+43_2400+44delinsGA
XM_011534092.1:c.2420+43_2420+44delinsGA XP_011532394.1:n.2420+43_2420+44delinsGA
NM_001354726.1:c.1841+43_1841+44delinsGA NP_001341655.1:n.1841+43_1841+44delinsGA
NM_001354727.1:c.2414+43_2414+44delinsGA NP_001341656.1:n.2414+43_2414+44delinsGA
NM_001354729.1:c.2402+43_2402+44delinsGA NP_001341658.1:n.2402+43_2402+44delinsGA
NM_001354730.1:c.2174+43_2174+44delinsGA NP_001341659.1:n.2174+43_2174+44delinsGA
NR_148950.1:n.2363+43_2363+44delinsGA
NR_148951.1:n.2239+43_2239+44delinsGA
XR_001740256.2:n.2453+43_2453+44delinsGA
XR_002959580.1:n.2453+43_2453+44delinsGA
XR_002959581.1:n.4070+43_4070+44delinsGA
NM_001354727.2:c.2414+43_2414+44delinsGA NP_001341656.1:n.2414+43_2414+44delinsGA
NM_004628.5:c.2420+43_2420+44delinsGA MANE Select NP_004619.3:n.2420+43_2420+44delinsGA
NR_148950.2:n.2292+43_2292+44delinsGA
NR_148951.2:n.2168+43_2168+44delinsGA
NM_001354726.2:c.1841+43_1841+44delinsGA NP_001341655.1:n.1841+43_1841+44delinsGA
NM_001354729.2:c.2402+43_2402+44delinsGA NP_001341658.1:n.2402+43_2402+44delinsGA
NM_001354730.2:c.2174+43_2174+44delinsGA NP_001341659.1:n.2174+43_2174+44delinsGA