Canonical Allele Identifier: CA2664573625

Gene: XPC

Linked Data

• gnomAD v4: 3-14145854-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14145856del , CM000665.2:g.14145856del	GRCh38
NC_000003.11:g.14187356del , CM000665.1:g.14187356del	GRCh37
NC_000003.10:g.14162357del	NCBI36
NG_011763.1:g.37818del , LRG_472:g.37818del

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.*86del MANE Select	ENSP00000285021.8:n.*86del
ENST00000285021.11:c.*86del	ENSP00000285021.7:n.*86del
ENST00000476581.6:c.*2362del	ENSP00000424548.1:n.*2362del
ENST00000601399.3:n.689+173del
ENST00000608606.1:c.598+173del
ENST00000626721.1:n.588+173del
NM_004628.4:c.*86del , LRG_472t1:c.*86del	NP_004619.3:n.*86del
NR_027299.1:n.2889del
NM_001354726.1:c.*86del	NP_001341655.1:n.*86del
NM_001354727.1:c.*86del	NP_001341656.1:n.*86del
NM_001354729.1:c.*86del	NP_001341658.1:n.*86del
NM_001354730.1:c.*86del	NP_001341659.1:n.*86del
NR_148950.1:n.2852del
NR_148951.1:n.2728del
XR_001740256.2:n.3216del
XR_002959580.1:n.3291del
XR_002959581.1:n.4559del
NM_001354727.2:c.*86del	NP_001341656.1:n.*86del
NM_004628.5:c.*86del MANE Select	NP_004619.3:n.*86del
NR_148950.2:n.2781del
NR_148951.2:n.2657del
NM_001354726.2:c.*86del	NP_001341655.1:n.*86del
NM_001354729.2:c.*86del	NP_001341658.1:n.*86del
NM_001354730.2:c.*86del	NP_001341659.1:n.*86del