Canonical Allele Identifier: CA1346950469
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148549_14148550delinsGC , CM000665.2:g.14148549_14148550delinsGC GRCh38
NC_000003.11:g.14190049_14190050delinsGC , CM000665.1:g.14190049_14190050delinsGC GRCh37
NC_000003.10:g.14165050_14165051delinsGC NCBI36
NG_011763.1:g.35123_35124delinsGC , LRG_472:g.35123_35124delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2420+12_2420+13delinsGC MANE Select ENSP00000285021.8:n.2420+12_2420+13delinsGC
ENST00000285021.11:c.2420+12_2420+13delinsGC ENSP00000285021.7:n.2420+12_2420+13delinsGC
ENST00000427795.2:n.285+12_285+13delinsGC
ENST00000476581.6:c.*1873+12_*1873+13delinsGC ENSP00000424548.1:n.*1873+12_*1873+13delinsGC
NM_004628.4:c.2420+12_2420+13delinsGC , LRG_472t1:c.2420+12_2420+13delinsGC NP_004619.3:n.2420+12_2420+13delinsGC
NR_027299.1:n.2400+12_2400+13delinsGC
XM_011534092.1:c.2420+12_2420+13delinsGC XP_011532394.1:n.2420+12_2420+13delinsGC
NM_001354726.1:c.1841+12_1841+13delinsGC NP_001341655.1:n.1841+12_1841+13delinsGC
NM_001354727.1:c.2414+12_2414+13delinsGC NP_001341656.1:n.2414+12_2414+13delinsGC
NM_001354729.1:c.2402+12_2402+13delinsGC NP_001341658.1:n.2402+12_2402+13delinsGC
NM_001354730.1:c.2174+12_2174+13delinsGC NP_001341659.1:n.2174+12_2174+13delinsGC
NR_148950.1:n.2363+12_2363+13delinsGC
NR_148951.1:n.2239+12_2239+13delinsGC
XR_001740256.2:n.2453+12_2453+13delinsGC
XR_002959580.1:n.2453+12_2453+13delinsGC
XR_002959581.1:n.4070+12_4070+13delinsGC
NM_001354727.2:c.2414+12_2414+13delinsGC NP_001341656.1:n.2414+12_2414+13delinsGC
NM_004628.5:c.2420+12_2420+13delinsGC MANE Select NP_004619.3:n.2420+12_2420+13delinsGC
NR_148950.2:n.2292+12_2292+13delinsGC
NR_148951.2:n.2168+12_2168+13delinsGC
NM_001354726.2:c.1841+12_1841+13delinsGC NP_001341655.1:n.1841+12_1841+13delinsGC
NM_001354729.2:c.2402+12_2402+13delinsGC NP_001341658.1:n.2402+12_2402+13delinsGC
NM_001354730.2:c.2174+12_2174+13delinsGC NP_001341659.1:n.2174+12_2174+13delinsGC