Canonical Allele Identifier: CA2664573701

Gene: XPC

Linked Data

• gnomAD v4: 3-14158354-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158357_14158358del , CM000665.2:g.14158357_14158358del	GRCh38
NC_000003.11:g.14199857_14199858del , CM000665.1:g.14199857_14199858del	GRCh37
NC_000003.10:g.14174859_14174860del	NCBI36
NG_011763.1:g.25317_25318del , LRG_472:g.25317_25318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1527_1528del MANE Select	ENSP00000285021.8:p.Gly510GlnfsTer8
ENST00000285021.11:c.1527_1528del	ENSP00000285021.7:p.Gly510GlnfsTer8
ENST00000476581.6:c.*980_*981del	ENSP00000424548.1:n.*980_*981del
NM_004628.4:c.1527_1528del , LRG_472t1:c.1527_1528del	NP_004619.3:p.Gly510GlnfsTer8
NR_027299.1:n.1507_1508del
XM_011534092.1:c.1527_1528del	XP_011532394.1:p.Gly510GlnfsTer8
XM_011534093.1:c.1527_1528del	XP_011532395.1:p.Gly510GlnfsTer8
NM_001354726.1:c.948_949del	NP_001341655.1:p.Gly317GlnfsTer8
NM_001354727.1:c.1527_1528del	NP_001341656.1:p.Gly510GlnfsTer8
NM_001354729.1:c.1509_1510del	NP_001341658.1:p.Gly504GlnfsTer8
NM_001354730.1:c.1527_1528del	NP_001341659.1:p.Gly510GlnfsTer8
NR_148950.1:n.1631_1632del
NR_148951.1:n.1507_1508del
XR_001740256.2:n.1560_1561del
XR_002959580.1:n.1560_1561del
XR_002959581.1:n.1560_1561del
NM_001354727.2:c.1527_1528del	NP_001341656.1:p.Gly510GlnfsTer8
NM_004628.5:c.1527_1528del MANE Select	NP_004619.3:p.Gly510GlnfsTer8
NR_148950.2:n.1560_1561del
NR_148951.2:n.1436_1437del
NM_001354726.2:c.948_949del	NP_001341655.1:p.Gly317GlnfsTer8
NM_001354729.2:c.1509_1510del	NP_001341658.1:p.Gly504GlnfsTer8
NM_001354730.2:c.1527_1528del	NP_001341659.1:p.Gly510GlnfsTer8