Canonical Allele Identifier: CA2535853773

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95111394-C-CCTCTCTGCAAGCTCCTCTCAGCCCCCCAGAGCCCACCCCAAACACATGCAGTGGGGCCTGCTACCCACCATAGTCTGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111403_95111481dup , CM000671.2:g.95111403_95111481dup	GRCh38
NC_000009.11:g.97873685_97873763dup , CM000671.1:g.97873685_97873763dup	GRCh37
NC_000009.10:g.96913506_96913584dup	NCBI36
NG_011707.1:g.211237_211315dup , LRG_497:g.211237_211315dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000710812.1:n.410+30623_410+30701dup (AOPEP)
ENST00000696260.1:n.2134_2144+68dup (FANCC)
ENST00000289081.8:c.1319_1329+68dup (FANCC)
ENST00000375305.6:c.1319_1329+68dup (FANCC)
ENST00000490972.7:c.1319_1330-50dup (FANCC)
ENST00000649334.1:c.1464_1474+68dup (FANCC)
ENST00000289081.7:c.1319_1329+68dup (FANCC)
ENST00000375305.5:c.1319_1329+68dup (FANCC)
ENST00000464627.5:n.646_656+68dup (FANCC)
ENST00000477942.5:n.674_684+68dup (FANCC)
ENST00000480712.5:n.504_514+68dup (FANCC)
ENST00000490972.6:c.1319_1330-50dup (FANCC)
NM_000136.2:c.1319_1329+68dup , LRG_497t1:c.1319_1329+68dup (FANCC)
NM_001243743.1:c.1319_1329+68dup (FANCC)
NM_001243744.1:c.1319_1330-50dup (FANCC)
XM_005251802.2:c.638_648+68dup (FANCC)
XM_006717001.1:c.1154_1164+68dup (FANCC)
XM_006717002.2:c.1319_1329+68dup (FANCC)
XM_011518365.1:c.1319_1329+68dup (FANCC)
XM_011518366.1:c.1319_1329+68dup (FANCC)
XM_011518367.1:c.863_873+68dup (FANCC)
XM_011519121.1:c.2319+30623_2319+30701dup (AOPEP)	XP_011517423.1:n.2319+30623_2319+30701dup...
XM_005251802.3:c.638_648+68dup (FANCC)
XM_006717001.3:c.1154_1164+68dup (FANCC)
XM_006717002.4:c.1319_1329+68dup (FANCC)
XM_011518365.3:c.1319_1329+68dup (FANCC)
XM_011518366.3:c.1319_1329+68dup (FANCC)
XM_011518367.2:c.863_873+68dup (FANCC)
XM_011519121.3:c.2319+30623_2319+30701dup (AOPEP)	XP_011517423.1:n.2319+30623_2319+30701dup...
XM_017014452.2:c.863_873+68dup (FANCC)
XM_017014453.1:c.863_873+68dup (FANCC)
XM_017014454.1:c.698_708+68dup (FANCC)
XM_024447451.1:c.1319_1329+68dup (FANCC)
NM_000136.3:c.1319_1329+68dup (FANCC)
NM_001243743.2:c.1319_1329+68dup (FANCC)
NM_001243744.2:c.1319_1330-50dup (FANCC)