Canonical Allele Identifier: CA1346950446

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148526_14148528delinsCCT , CM000665.2:g.14148526_14148528delinsCCT	GRCh38
NC_000003.11:g.14190026_14190028delinsCCT , CM000665.1:g.14190026_14190028delinsCCT	GRCh37
NC_000003.10:g.14165027_14165029delinsCCT	NCBI36
NG_011763.1:g.35145_35147delinsAGG , LRG_472:g.35145_35147delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420+34_2420+36delinsAGG MANE Select	ENSP00000285021.8:n.2420+34_2420+36delinsAGG
ENST00000285021.11:c.2420+34_2420+36delinsAGG	ENSP00000285021.7:n.2420+34_2420+36delinsAGG
ENST00000427795.2:n.285+34_285+36delinsAGG
ENST00000476581.6:c.*1873+34_*1873+36delinsAGG	ENSP00000424548.1:n.*1873+34_*1873+36delinsAGG
NM_004628.4:c.2420+34_2420+36delinsAGG , LRG_472t1:c.2420+34_2420+36delinsAGG	NP_004619.3:n.2420+34_2420+36delinsAGG
NR_027299.1:n.2400+34_2400+36delinsAGG
XM_011534092.1:c.2420+34_2420+36delinsAGG	XP_011532394.1:n.2420+34_2420+36delinsAGG
NM_001354726.1:c.1841+34_1841+36delinsAGG	NP_001341655.1:n.1841+34_1841+36delinsAGG
NM_001354727.1:c.2414+34_2414+36delinsAGG	NP_001341656.1:n.2414+34_2414+36delinsAGG
NM_001354729.1:c.2402+34_2402+36delinsAGG	NP_001341658.1:n.2402+34_2402+36delinsAGG
NM_001354730.1:c.2174+34_2174+36delinsAGG	NP_001341659.1:n.2174+34_2174+36delinsAGG
NR_148950.1:n.2363+34_2363+36delinsAGG
NR_148951.1:n.2239+34_2239+36delinsAGG
XR_001740256.2:n.2453+34_2453+36delinsAGG
XR_002959580.1:n.2453+34_2453+36delinsAGG
XR_002959581.1:n.4070+34_4070+36delinsAGG
NM_001354727.2:c.2414+34_2414+36delinsAGG	NP_001341656.1:n.2414+34_2414+36delinsAGG
NM_004628.5:c.2420+34_2420+36delinsAGG MANE Select	NP_004619.3:n.2420+34_2420+36delinsAGG
NR_148950.2:n.2292+34_2292+36delinsAGG
NR_148951.2:n.2168+34_2168+36delinsAGG
NM_001354726.2:c.1841+34_1841+36delinsAGG	NP_001341655.1:n.1841+34_1841+36delinsAGG
NM_001354729.2:c.2402+34_2402+36delinsAGG	NP_001341658.1:n.2402+34_2402+36delinsAGG
NM_001354730.2:c.2174+34_2174+36delinsAGG	NP_001341659.1:n.2174+34_2174+36delinsAGG