Canonical Allele Identifier: CA1346950357
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148418_14148419delinsCT , CM000665.2:g.14148418_14148419delinsCT GRCh38
NC_000003.11:g.14189918_14189919delinsCT , CM000665.1:g.14189918_14189919delinsCT GRCh37
NC_000003.10:g.14164919_14164920delinsCT NCBI36
NG_011763.1:g.35254_35255delinsAG , LRG_472:g.35254_35255delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2420+143_2420+144delinsAG MANE Select ENSP00000285021.8:n.2420+143_2420+144delinsAG
ENST00000285021.11:c.2420+143_2420+144delinsAG ENSP00000285021.7:n.2420+143_2420+144delinsAG
ENST00000427795.2:n.285+143_285+144delinsAG
ENST00000476581.6:c.*1873+143_*1873+144delinsAG ENSP00000424548.1:n.*1873+143_*1873+144delinsAG
NM_004628.4:c.2420+143_2420+144delinsAG , LRG_472t1:c.2420+143_2420+144delinsAG NP_004619.3:n.2420+143_2420+144delinsAG
NR_027299.1:n.2400+143_2400+144delinsAG
XM_011534092.1:c.2420+143_2420+144delinsAG XP_011532394.1:n.2420+143_2420+144delinsAG
NM_001354726.1:c.1841+143_1841+144delinsAG NP_001341655.1:n.1841+143_1841+144delinsAG
NM_001354727.1:c.2414+143_2414+144delinsAG NP_001341656.1:n.2414+143_2414+144delinsAG
NM_001354729.1:c.2402+143_2402+144delinsAG NP_001341658.1:n.2402+143_2402+144delinsAG
NM_001354730.1:c.2174+143_2174+144delinsAG NP_001341659.1:n.2174+143_2174+144delinsAG
NR_148950.1:n.2363+143_2363+144delinsAG
NR_148951.1:n.2239+143_2239+144delinsAG
XR_001740256.2:n.2453+143_2453+144delinsAG
XR_002959580.1:n.2453+143_2453+144delinsAG
XR_002959581.1:n.4070+143_4070+144delinsAG
NM_001354727.2:c.2414+143_2414+144delinsAG NP_001341656.1:n.2414+143_2414+144delinsAG
NM_004628.5:c.2420+143_2420+144delinsAG MANE Select NP_004619.3:n.2420+143_2420+144delinsAG
NR_148950.2:n.2292+143_2292+144delinsAG
NR_148951.2:n.2168+143_2168+144delinsAG
NM_001354726.2:c.1841+143_1841+144delinsAG NP_001341655.1:n.1841+143_1841+144delinsAG
NM_001354729.2:c.2402+143_2402+144delinsAG NP_001341658.1:n.2402+143_2402+144delinsAG
NM_001354730.2:c.2174+143_2174+144delinsAG NP_001341659.1:n.2174+143_2174+144delinsAG