Canonical Allele Identifier: CA2267279

Gene: XPC

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14152401_14152402del , CM000665.2:g.14152401_14152402del	GRCh38
NC_000003.11:g.14193901_14193902del , CM000665.1:g.14193901_14193902del	GRCh37
NC_000003.10:g.14168902_14168903del	NCBI36
NG_011763.1:g.31273_31274del , LRG_472:g.31273_31274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2050_2051del MANE Select	ENSP00000285021.8:p.Leu684AlafsTer28
ENST00000285021.11:c.2050_2051del	ENSP00000285021.7:p.Leu684AlafsTer28
ENST00000476581.6:c.*1503_*1504del	ENSP00000424548.1:n.*1503_*1504del
NM_004628.4:c.2050_2051del , LRG_472t1:c.2050_2051del	NP_004619.3:p.Leu684AlafsTer28
NR_027299.1:n.2030_2031del
XM_011534092.1:c.2050_2051del	XP_011532394.1:p.Leu684AlafsTer28
NM_001354726.1:c.1471_1472del	NP_001341655.1:p.Leu491AlafsTer28
NM_001354727.1:c.2044_2045del	NP_001341656.1:p.Leu682AlafsTer28
NM_001354729.1:c.2032_2033del	NP_001341658.1:p.Leu678AlafsTer28
NM_001354730.1:c.1804_1805del	NP_001341659.1:p.Leu602AlafsTer28
NR_148950.1:n.1993_1994del
NR_148951.1:n.1869_1870del
XR_001740256.2:n.2083_2084del
XR_002959580.1:n.2083_2084del
XR_002959581.1:n.3700_3701del
NM_001354727.2:c.2044_2045del	NP_001341656.1:p.Leu682AlafsTer28
NM_004628.5:c.2050_2051del MANE Select	NP_004619.3:p.Leu684AlafsTer28
NR_148950.2:n.1922_1923del
NR_148951.2:n.1798_1799del
NM_001354726.2:c.1471_1472del	NP_001341655.1:p.Leu491AlafsTer28
NM_001354729.2:c.2032_2033del	NP_001341658.1:p.Leu678AlafsTer28
NM_001354730.2:c.1804_1805del	NP_001341659.1:p.Leu602AlafsTer28