Canonical Allele Identifier: CA541676373

Gene: XPC

Linked Data

• dbSNP Id: rs1239611715
• gnomAD v2: 3-14190177-T-TA
• gnomAD v4: 3-14148677-T-TA
• MyVariant Identifiers: chr3:g.14190177_14190178insA (hg19) ; chr3:g.14148677_14148678insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148678dup , CM000665.2:g.14148678dup	GRCh38
NC_000003.11:g.14190178dup , CM000665.1:g.14190178dup	GRCh37
NC_000003.10:g.14165179dup	NCBI36
NG_011763.1:g.34995dup , LRG_472:g.34995dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2304dup MANE Select	ENSP00000285021.8:p.Ile769TyrfsTer30
ENST00000285021.11:c.2304dup	ENSP00000285021.7:p.Ile769TyrfsTer30
ENST00000427795.2:n.169dup
ENST00000476581.6:c.*1757dup	ENSP00000424548.1:n.*1757dup
NM_004628.4:c.2304dup , LRG_472t1:c.2304dup	NP_004619.3:p.Ile769TyrfsTer30
NR_027299.1:n.2284dup
XM_011534092.1:c.2304dup	XP_011532394.1:p.Ile769TyrfsTer30
NM_001354726.1:c.1725dup	NP_001341655.1:p.Ile576TyrfsTer30
NM_001354727.1:c.2298dup	NP_001341656.1:p.Ile767TyrfsTer30
NM_001354729.1:c.2286dup	NP_001341658.1:p.Ile763TyrfsTer30
NM_001354730.1:c.2058dup	NP_001341659.1:p.Ile687TyrfsTer30
NR_148950.1:n.2247dup
NR_148951.1:n.2123dup
XR_001740256.2:n.2337dup
XR_002959580.1:n.2337dup
XR_002959581.1:n.3954dup
NM_001354727.2:c.2298dup	NP_001341656.1:p.Ile767TyrfsTer30
NM_004628.5:c.2304dup MANE Select	NP_004619.3:p.Ile769TyrfsTer30
NR_148950.2:n.2176dup
NR_148951.2:n.2052dup
NM_001354726.2:c.1725dup	NP_001341655.1:p.Ile576TyrfsTer30
NM_001354729.2:c.2286dup	NP_001341658.1:p.Ile763TyrfsTer30
NM_001354730.2:c.2058dup	NP_001341659.1:p.Ile687TyrfsTer30