Canonical Allele Identifier: CA1346950835

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148816_14148817delinsTC , CM000665.2:g.14148816_14148817delinsTC	GRCh38
NC_000003.11:g.14190316_14190317delinsTC , CM000665.1:g.14190316_14190317delinsTC	GRCh37
NC_000003.10:g.14165317_14165318delinsTC	NCBI36
NG_011763.1:g.34856_34857delinsGA , LRG_472:g.34856_34857delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2247_2248delinsGA MANE Select	ENSP00000285021.8:p.Gly749=
ENST00000285021.11:c.2247_2248delinsGA	ENSP00000285021.7:p.Gly749=
ENST00000427795.2:n.112_113delinsGA
ENST00000476581.6:c.*1700_*1701delinsGA	ENSP00000424548.1:n.*1700_*1701delinsGA
NM_004628.4:c.2247_2248delinsGA , LRG_472t1:c.2247_2248delinsGA	NP_004619.3:p.Gly749=
NR_027299.1:n.2227_2228delinsGA
XM_011534092.1:c.2247_2248delinsGA	XP_011532394.1:p.Gly749=
NM_001354726.1:c.1668_1669delinsGA	NP_001341655.1:p.Gly556=
NM_001354727.1:c.2241_2242delinsGA	NP_001341656.1:p.Gly747=
NM_001354729.1:c.2229_2230delinsGA	NP_001341658.1:p.Gly743=
NM_001354730.1:c.2001_2002delinsGA	NP_001341659.1:p.Gly667=
NR_148950.1:n.2190_2191delinsGA
NR_148951.1:n.2066_2067delinsGA
XR_001740256.2:n.2280_2281delinsGA
XR_002959580.1:n.2280_2281delinsGA
XR_002959581.1:n.3897_3898delinsGA
NM_001354727.2:c.2241_2242delinsGA	NP_001341656.1:p.Gly747=
NM_004628.5:c.2247_2248delinsGA MANE Select	NP_004619.3:p.Gly749=
NR_148950.2:n.2119_2120delinsGA
NR_148951.2:n.1995_1996delinsGA
NM_001354726.2:c.1668_1669delinsGA	NP_001341655.1:p.Gly556=
NM_001354729.2:c.2229_2230delinsGA	NP_001341658.1:p.Gly743=
NM_001354730.2:c.2001_2002delinsGA	NP_001341659.1:p.Gly667=