Canonical Allele Identifier: CA2592798076

Gene: XPC

Linked Data

• dbSNP Id: rs2125009239
• gnomAD v3: 3-14148456-AC-A
• gnomAD v4: 3-14148456-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148458del , CM000665.2:g.14148458del	GRCh38
NC_000003.11:g.14189958del , CM000665.1:g.14189958del	GRCh37
NC_000003.10:g.14164959del	NCBI36
NG_011763.1:g.35216del , LRG_472:g.35216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420+105del MANE Select	ENSP00000285021.8:n.2420+105del
ENST00000285021.11:c.2420+105del	ENSP00000285021.7:n.2420+105del
ENST00000427795.2:n.285+105del
ENST00000476581.6:c.*1873+105del	ENSP00000424548.1:n.*1873+105del
NM_004628.4:c.2420+105del , LRG_472t1:c.2420+105del	NP_004619.3:n.2420+105del
NR_027299.1:n.2400+105del
XM_011534092.1:c.2420+105del	XP_011532394.1:n.2420+105del
NM_001354726.1:c.1841+105del	NP_001341655.1:n.1841+105del
NM_001354727.1:c.2414+105del	NP_001341656.1:n.2414+105del
NM_001354729.1:c.2402+105del	NP_001341658.1:n.2402+105del
NM_001354730.1:c.2174+105del	NP_001341659.1:n.2174+105del
NR_148950.1:n.2363+105del
NR_148951.1:n.2239+105del
XR_001740256.2:n.2453+105del
XR_002959580.1:n.2453+105del
XR_002959581.1:n.4070+105del
NM_001354727.2:c.2414+105del	NP_001341656.1:n.2414+105del
NM_004628.5:c.2420+105del MANE Select	NP_004619.3:n.2420+105del
NR_148950.2:n.2292+105del
NR_148951.2:n.2168+105del
NM_001354726.2:c.1841+105del	NP_001341655.1:n.1841+105del
NM_001354729.2:c.2402+105del	NP_001341658.1:n.2402+105del
NM_001354730.2:c.2174+105del	NP_001341659.1:n.2174+105del