Canonical Allele Identifier: CA2702103331
Gene: XPC HGNC NCBI

Linked Data

dbSNP Id: rs2125003962

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14145855_14145857del , CM000665.2:g.14145855_14145857del GRCh38
NC_000003.11:g.14187355_14187357del , CM000665.1:g.14187355_14187357del GRCh37
NC_000003.10:g.14162356_14162358del NCBI36
NG_011763.1:g.37822_37824del , LRG_472:g.37822_37824del

Transcript Alleles

HGVS Amino-acid change
ENST00000285021.12:c.*90_*92del MANE Select ENSP00000285021.8:n.*90_*92del
ENST00000285021.11:c.*90_*92del ENSP00000285021.7:n.*90_*92del
ENST00000476581.6:c.*2366_*2368del ENSP00000424548.1:n.*2366_*2368del
ENST00000601399.3:n.689+172_689+174del
ENST00000608606.1:c.598+172_598+174del
ENST00000626721.1:n.588+172_588+174del
NM_004628.4:c.*90_*92del , LRG_472t1:c.*90_*92del NP_004619.3:n.*90_*92del
NR_027299.1:n.2893_2895del
NM_001354726.1:c.*90_*92del NP_001341655.1:n.*90_*92del
NM_001354727.1:c.*90_*92del NP_001341656.1:n.*90_*92del
NM_001354729.1:c.*90_*92del NP_001341658.1:n.*90_*92del
NM_001354730.1:c.*90_*92del NP_001341659.1:n.*90_*92del
NR_148950.1:n.2856_2858del
NR_148951.1:n.2732_2734del
XR_001740256.2:n.3220_3222del
XR_002959580.1:n.3295_3297del
XR_002959581.1:n.4563_4565del
NM_001354727.2:c.*90_*92del NP_001341656.1:n.*90_*92del
NM_004628.5:c.*90_*92del MANE Select NP_004619.3:n.*90_*92del
NR_148950.2:n.2785_2787del
NR_148951.2:n.2661_2663del
NM_001354726.2:c.*90_*92del NP_001341655.1:n.*90_*92del
NM_001354729.2:c.*90_*92del NP_001341658.1:n.*90_*92del
NM_001354730.2:c.*90_*92del NP_001341659.1:n.*90_*92del