Canonical Allele Identifier: CA2664573521

Gene: XPC

Linked Data

• gnomAD v4: 3-14148771-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148773_14148774del , CM000665.2:g.14148773_14148774del	GRCh38
NC_000003.11:g.14190273_14190274del , CM000665.1:g.14190273_14190274del	GRCh37
NC_000003.10:g.14165274_14165275del	NCBI36
NG_011763.1:g.34900_34901del , LRG_472:g.34900_34901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2251-42_2251-41del MANE Select	ENSP00000285021.8:n.2251-42_2251-41del
ENST00000285021.11:c.2251-42_2251-41del	ENSP00000285021.7:n.2251-42_2251-41del
ENST00000427795.2:n.116-42_116-41del
ENST00000476581.6:c.*1704-42_*1704-41del	ENSP00000424548.1:n.*1704-42_*1704-41del
NM_004628.4:c.2251-42_2251-41del , LRG_472t1:c.2251-42_2251-41del	NP_004619.3:n.2251-42_2251-41del
NR_027299.1:n.2231-42_2231-41del
XM_011534092.1:c.2251-42_2251-41del	XP_011532394.1:n.2251-42_2251-41del
NM_001354726.1:c.1672-42_1672-41del	NP_001341655.1:n.1672-42_1672-41del
NM_001354727.1:c.2245-42_2245-41del	NP_001341656.1:n.2245-42_2245-41del
NM_001354729.1:c.2233-42_2233-41del	NP_001341658.1:n.2233-42_2233-41del
NM_001354730.1:c.2005-42_2005-41del	NP_001341659.1:n.2005-42_2005-41del
NR_148950.1:n.2194-42_2194-41del
NR_148951.1:n.2070-42_2070-41del
XR_001740256.2:n.2284-42_2284-41del
XR_002959580.1:n.2284-42_2284-41del
XR_002959581.1:n.3901-42_3901-41del
NM_001354727.2:c.2245-42_2245-41del	NP_001341656.1:n.2245-42_2245-41del
NM_004628.5:c.2251-42_2251-41del MANE Select	NP_004619.3:n.2251-42_2251-41del
NR_148950.2:n.2123-42_2123-41del
NR_148951.2:n.1999-42_1999-41del
NM_001354726.2:c.1672-42_1672-41del	NP_001341655.1:n.1672-42_1672-41del
NM_001354729.2:c.2233-42_2233-41del	NP_001341658.1:n.2233-42_2233-41del
NM_001354730.2:c.2005-42_2005-41del	NP_001341659.1:n.2005-42_2005-41del