Canonical Allele Identifier: CA2577516725

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148852_14148855del , CM000665.2:g.14148852_14148855del	GRCh38
NC_000003.11:g.14190352_14190355del , CM000665.1:g.14190352_14190355del	GRCh37
NC_000003.10:g.14165353_14165356del	NCBI36
NG_011763.1:g.34822_34825del , LRG_472:g.34822_34825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2213_2216del MANE Select	ENSP00000285021.8:p.Thr738ArgfsTer28
ENST00000285021.11:c.2213_2216del	ENSP00000285021.7:p.Thr738ArgfsTer28
ENST00000427795.2:n.78_81del
ENST00000476581.6:c.*1666_*1669del	ENSP00000424548.1:n.*1666_*1669del
NM_004628.4:c.2213_2216del , LRG_472t1:c.2213_2216del	NP_004619.3:p.Thr738ArgfsTer28
NR_027299.1:n.2193_2196del
XM_011534092.1:c.2213_2216del	XP_011532394.1:p.Thr738ArgfsTer28
NM_001354726.1:c.1634_1637del	NP_001341655.1:p.Thr545ArgfsTer28
NM_001354727.1:c.2207_2210del	NP_001341656.1:p.Thr736ArgfsTer28
NM_001354729.1:c.2195_2198del	NP_001341658.1:p.Thr732ArgfsTer28
NM_001354730.1:c.1967_1970del	NP_001341659.1:p.Thr656ArgfsTer28
NR_148950.1:n.2156_2159del
NR_148951.1:n.2032_2035del
XR_001740256.2:n.2246_2249del
XR_002959580.1:n.2246_2249del
XR_002959581.1:n.3863_3866del
NM_001354727.2:c.2207_2210del	NP_001341656.1:p.Thr736ArgfsTer28
NM_004628.5:c.2213_2216del MANE Select	NP_004619.3:p.Thr738ArgfsTer28
NR_148950.2:n.2085_2088del
NR_148951.2:n.1961_1964del
NM_001354726.2:c.1634_1637del	NP_001341655.1:p.Thr545ArgfsTer28
NM_001354729.2:c.2195_2198del	NP_001341658.1:p.Thr732ArgfsTer28
NM_001354730.2:c.1967_1970del	NP_001341659.1:p.Thr656ArgfsTer28