Canonical Allele Identifier: CA1346950425

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148513_14148514delinsAC , CM000665.2:g.14148513_14148514delinsAC	GRCh38
NC_000003.11:g.14190013_14190014delinsAC , CM000665.1:g.14190013_14190014delinsAC	GRCh37
NC_000003.10:g.14165014_14165015delinsAC	NCBI36
NG_011763.1:g.35159_35160delinsGT , LRG_472:g.35159_35160delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420+48_2420+49delinsGT MANE Select	ENSP00000285021.8:n.2420+48_2420+49delinsGT
ENST00000285021.11:c.2420+48_2420+49delinsGT	ENSP00000285021.7:n.2420+48_2420+49delinsGT
ENST00000427795.2:n.285+48_285+49delinsGT
ENST00000476581.6:c.*1873+48_*1873+49delinsGT	ENSP00000424548.1:n.*1873+48_*1873+49delinsGT
NM_004628.4:c.2420+48_2420+49delinsGT , LRG_472t1:c.2420+48_2420+49delinsGT	NP_004619.3:n.2420+48_2420+49delinsGT
NR_027299.1:n.2400+48_2400+49delinsGT
XM_011534092.1:c.2420+48_2420+49delinsGT	XP_011532394.1:n.2420+48_2420+49delinsGT
NM_001354726.1:c.1841+48_1841+49delinsGT	NP_001341655.1:n.1841+48_1841+49delinsGT
NM_001354727.1:c.2414+48_2414+49delinsGT	NP_001341656.1:n.2414+48_2414+49delinsGT
NM_001354729.1:c.2402+48_2402+49delinsGT	NP_001341658.1:n.2402+48_2402+49delinsGT
NM_001354730.1:c.2174+48_2174+49delinsGT	NP_001341659.1:n.2174+48_2174+49delinsGT
NR_148950.1:n.2363+48_2363+49delinsGT
NR_148951.1:n.2239+48_2239+49delinsGT
XR_001740256.2:n.2453+48_2453+49delinsGT
XR_002959580.1:n.2453+48_2453+49delinsGT
XR_002959581.1:n.4070+48_4070+49delinsGT
NM_001354727.2:c.2414+48_2414+49delinsGT	NP_001341656.1:n.2414+48_2414+49delinsGT
NM_004628.5:c.2420+48_2420+49delinsGT MANE Select	NP_004619.3:n.2420+48_2420+49delinsGT
NR_148950.2:n.2292+48_2292+49delinsGT
NR_148951.2:n.2168+48_2168+49delinsGT
NM_001354726.2:c.1841+48_1841+49delinsGT	NP_001341655.1:n.1841+48_1841+49delinsGT
NM_001354729.2:c.2402+48_2402+49delinsGT	NP_001341658.1:n.2402+48_2402+49delinsGT
NM_001354730.2:c.2174+48_2174+49delinsGT	NP_001341659.1:n.2174+48_2174+49delinsGT