Canonical Allele Identifier: CA2695197758

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148681del , CM000665.2:g.14148681del	GRCh38
NC_000003.11:g.14190181del , CM000665.1:g.14190181del	GRCh37
NC_000003.10:g.14165182del	NCBI36
NG_011763.1:g.34992del , LRG_472:g.34992del

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2301del MANE Select	NP_004619.3:p.Met767IlefsTer8
ENST00000285021.12:c.2301del MANE Select	ENSP00000285021.8:p.Met767IlefsTer8
NM_001354726.1:c.1722del	NP_001341655.1:p.Met574IlefsTer8
NM_001354726.2:c.1722del	NP_001341655.1:p.Met574IlefsTer8
NM_001354727.1:c.2295del	NP_001341656.1:p.Met765IlefsTer8
NM_001354727.2:c.2295del	NP_001341656.1:p.Met765IlefsTer8
NM_001354729.1:c.2283del	NP_001341658.1:p.Met761IlefsTer8
NM_001354729.2:c.2283del	NP_001341658.1:p.Met761IlefsTer8
NM_001354730.1:c.2055del	NP_001341659.1:p.Met685IlefsTer8
NM_001354730.2:c.2055del	NP_001341659.1:p.Met685IlefsTer8
NM_004628.4:c.2301del , LRG_472t1:c.2301del	NP_004619.3:p.Met767IlefsTer8
NR_027299.1:n.2281del
NR_148950.1:n.2244del
NR_148950.2:n.2173del
NR_148951.1:n.2120del
NR_148951.2:n.2049del
ENST00000285021.11:c.2301del	ENSP00000285021.7:p.Met767IlefsTer8
ENST00000427795.2:n.166del
ENST00000476581.6:c.*1754del	ENSP00000424548.1:n.*1754del
XM_011534092.1:c.2301del	XP_011532394.1:p.Met767IlefsTer8
XR_001740256.2:n.2334del
XR_002959580.1:n.2334del
XR_002959581.1:n.3951del