Canonical Allele Identifier: CA2755301518

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148420_14148421del , CM000665.2:g.14148420_14148421del	GRCh38
NC_000003.11:g.14189920_14189921del , CM000665.1:g.14189920_14189921del	GRCh37
NC_000003.10:g.14164921_14164922del	NCBI36
NG_011763.1:g.35253_35254del , LRG_472:g.35253_35254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420+142_2420+143del MANE Select	ENSP00000285021.8:n.2420+142_2420+143del
ENST00000285021.11:c.2420+142_2420+143del	ENSP00000285021.7:n.2420+142_2420+143del
ENST00000427795.2:n.285+142_285+143del
ENST00000476581.6:c.*1873+142_*1873+143del	ENSP00000424548.1:n.*1873+142_*1873+143del
NM_004628.4:c.2420+142_2420+143del , LRG_472t1:c.2420+142_2420+143del	NP_004619.3:n.2420+142_2420+143del
NR_027299.1:n.2400+142_2400+143del
XM_011534092.1:c.2420+142_2420+143del	XP_011532394.1:n.2420+142_2420+143del
NM_001354726.1:c.1841+142_1841+143del	NP_001341655.1:n.1841+142_1841+143del
NM_001354727.1:c.2414+142_2414+143del	NP_001341656.1:n.2414+142_2414+143del
NM_001354729.1:c.2402+142_2402+143del	NP_001341658.1:n.2402+142_2402+143del
NM_001354730.1:c.2174+142_2174+143del	NP_001341659.1:n.2174+142_2174+143del
NR_148950.1:n.2363+142_2363+143del
NR_148951.1:n.2239+142_2239+143del
XR_001740256.2:n.2453+142_2453+143del
XR_002959580.1:n.2453+142_2453+143del
XR_002959581.1:n.4070+142_4070+143del
NM_001354727.2:c.2414+142_2414+143del	NP_001341656.1:n.2414+142_2414+143del
NM_004628.5:c.2420+142_2420+143del MANE Select	NP_004619.3:n.2420+142_2420+143del
NR_148950.2:n.2292+142_2292+143del
NR_148951.2:n.2168+142_2168+143del
NM_001354726.2:c.1841+142_1841+143del	NP_001341655.1:n.1841+142_1841+143del
NM_001354729.2:c.2402+142_2402+143del	NP_001341658.1:n.2402+142_2402+143del
NM_001354730.2:c.2174+142_2174+143del	NP_001341659.1:n.2174+142_2174+143del