Canonical Allele Identifier: CA351537635
Gene: XPC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148531_14148532del , CM000665.2:g.14148531_14148532del GRCh38
NC_000003.11:g.14190031_14190032del , CM000665.1:g.14190031_14190032del GRCh37
NC_000003.10:g.14165032_14165033del NCBI36
NG_011763.1:g.35144_35145del , LRG_472:g.35144_35145del

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2420+33_2420+34del MANE Select ENSP00000285021.8:n.2420+33_2420+34del
ENST00000285021.11:c.2420+33_2420+34del ENSP00000285021.7:n.2420+33_2420+34del
ENST00000427795.2:n.285+33_285+34del
ENST00000476581.6:c.*1873+33_*1873+34del ENSP00000424548.1:n.*1873+33_*1873+34del
NM_004628.4:c.2420+33_2420+34del , LRG_472t1:c.2420+33_2420+34del NP_004619.3:n.2420+33_2420+34del
NR_027299.1:n.2400+33_2400+34del
XM_011534092.1:c.2420+33_2420+34del XP_011532394.1:n.2420+33_2420+34del
NM_001354726.1:c.1841+33_1841+34del NP_001341655.1:n.1841+33_1841+34del
NM_001354727.1:c.2414+33_2414+34del NP_001341656.1:n.2414+33_2414+34del
NM_001354729.1:c.2402+33_2402+34del NP_001341658.1:n.2402+33_2402+34del
NM_001354730.1:c.2174+33_2174+34del NP_001341659.1:n.2174+33_2174+34del
NR_148950.1:n.2363+33_2363+34del
NR_148951.1:n.2239+33_2239+34del
XR_001740256.2:n.2453+33_2453+34del
XR_002959580.1:n.2453+33_2453+34del
XR_002959581.1:n.4070+33_4070+34del
NM_001354727.2:c.2414+33_2414+34del NP_001341656.1:n.2414+33_2414+34del
NM_004628.5:c.2420+33_2420+34del MANE Select NP_004619.3:n.2420+33_2420+34del
NR_148950.2:n.2292+33_2292+34del
NR_148951.2:n.2168+33_2168+34del
NM_001354726.2:c.1841+33_1841+34del NP_001341655.1:n.1841+33_1841+34del
NM_001354729.2:c.2402+33_2402+34del NP_001341658.1:n.2402+33_2402+34del
NM_001354730.2:c.2174+33_2174+34del NP_001341659.1:n.2174+33_2174+34del