Canonical Allele Identifier: CA1346950409
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148505_14148507delinsCTG , CM000665.2:g.14148505_14148507delinsCTG GRCh38
NC_000003.11:g.14190005_14190007delinsCTG , CM000665.1:g.14190005_14190007delinsCTG GRCh37
NC_000003.10:g.14165006_14165008delinsCTG NCBI36
NG_011763.1:g.35166_35168delinsCAG , LRG_472:g.35166_35168delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2420+55_2420+57delinsCAG MANE Select ENSP00000285021.8:n.2420+55_2420+57delinsCAG
ENST00000285021.11:c.2420+55_2420+57delinsCAG ENSP00000285021.7:n.2420+55_2420+57delinsCAG
ENST00000427795.2:n.285+55_285+57delinsCAG
ENST00000476581.6:c.*1873+55_*1873+57delinsCAG ENSP00000424548.1:n.*1873+55_*1873+57delinsCAG
NM_004628.4:c.2420+55_2420+57delinsCAG , LRG_472t1:c.2420+55_2420+57delinsCAG NP_004619.3:n.2420+55_2420+57delinsCAG
NR_027299.1:n.2400+55_2400+57delinsCAG
XM_011534092.1:c.2420+55_2420+57delinsCAG XP_011532394.1:n.2420+55_2420+57delinsCAG
NM_001354726.1:c.1841+55_1841+57delinsCAG NP_001341655.1:n.1841+55_1841+57delinsCAG
NM_001354727.1:c.2414+55_2414+57delinsCAG NP_001341656.1:n.2414+55_2414+57delinsCAG
NM_001354729.1:c.2402+55_2402+57delinsCAG NP_001341658.1:n.2402+55_2402+57delinsCAG
NM_001354730.1:c.2174+55_2174+57delinsCAG NP_001341659.1:n.2174+55_2174+57delinsCAG
NR_148950.1:n.2363+55_2363+57delinsCAG
NR_148951.1:n.2239+55_2239+57delinsCAG
XR_001740256.2:n.2453+55_2453+57delinsCAG
XR_002959580.1:n.2453+55_2453+57delinsCAG
XR_002959581.1:n.4070+55_4070+57delinsCAG
NM_001354727.2:c.2414+55_2414+57delinsCAG NP_001341656.1:n.2414+55_2414+57delinsCAG
NM_004628.5:c.2420+55_2420+57delinsCAG MANE Select NP_004619.3:n.2420+55_2420+57delinsCAG
NR_148950.2:n.2292+55_2292+57delinsCAG
NR_148951.2:n.2168+55_2168+57delinsCAG
NM_001354726.2:c.1841+55_1841+57delinsCAG NP_001341655.1:n.1841+55_1841+57delinsCAG
NM_001354729.2:c.2402+55_2402+57delinsCAG NP_001341658.1:n.2402+55_2402+57delinsCAG
NM_001354730.2:c.2174+55_2174+57delinsCAG NP_001341659.1:n.2174+55_2174+57delinsCAG