Canonical Allele Identifier: CA2499216518

Gene: XPC

Linked Data

• ClinVar Variation Id: 1158233
• ClinVar RCV Id: RCV001501577
• dbSNP Id: rs2125009890

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148737_14148738delinsGT , CM000665.2:g.14148737_14148738delinsGT	GRCh38
NC_000003.11:g.14190237_14190238delinsGT , CM000665.1:g.14190237_14190238delinsGT	GRCh37
NC_000003.10:g.14165238_14165239delinsGT	NCBI36
NG_011763.1:g.34935_34936delinsAC , LRG_472:g.34935_34936delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2251-7_2251-6delinsAC MANE Select	ENSP00000285021.8:n.2251-7_2251-6delinsAC
ENST00000285021.11:c.2251-7_2251-6delinsAC	ENSP00000285021.7:n.2251-7_2251-6delinsAC
ENST00000427795.2:n.116-7_116-6delinsAC
ENST00000476581.6:c.*1704-7_*1704-6delinsAC	ENSP00000424548.1:n.*1704-7_*1704-6delinsAC
NM_004628.4:c.2251-7_2251-6delinsAC , LRG_472t1:c.2251-7_2251-6delinsAC	NP_004619.3:n.2251-7_2251-6delinsAC
NR_027299.1:n.2231-7_2231-6delinsAC
XM_011534092.1:c.2251-7_2251-6delinsAC	XP_011532394.1:n.2251-7_2251-6delinsAC
NM_001354726.1:c.1672-7_1672-6delinsAC	NP_001341655.1:n.1672-7_1672-6delinsAC
NM_001354727.1:c.2245-7_2245-6delinsAC	NP_001341656.1:n.2245-7_2245-6delinsAC
NM_001354729.1:c.2233-7_2233-6delinsAC	NP_001341658.1:n.2233-7_2233-6delinsAC
NM_001354730.1:c.2005-7_2005-6delinsAC	NP_001341659.1:n.2005-7_2005-6delinsAC
NR_148950.1:n.2194-7_2194-6delinsAC
NR_148951.1:n.2070-7_2070-6delinsAC
XR_001740256.2:n.2284-7_2284-6delinsAC
XR_002959580.1:n.2284-7_2284-6delinsAC
XR_002959581.1:n.3901-7_3901-6delinsAC
NM_001354727.2:c.2245-7_2245-6delinsAC	NP_001341656.1:n.2245-7_2245-6delinsAC
NM_004628.5:c.2251-7_2251-6delinsAC MANE Select	NP_004619.3:n.2251-7_2251-6delinsAC
NR_148950.2:n.2123-7_2123-6delinsAC
NR_148951.2:n.1999-7_1999-6delinsAC
NM_001354726.2:c.1672-7_1672-6delinsAC	NP_001341655.1:n.1672-7_1672-6delinsAC
NM_001354729.2:c.2233-7_2233-6delinsAC	NP_001341658.1:n.2233-7_2233-6delinsAC
NM_001354730.2:c.2005-7_2005-6delinsAC	NP_001341659.1:n.2005-7_2005-6delinsAC