Canonical Allele Identifier: CA658657887

Gene: AOPEP FANCC

Linked Data

• ClinVar Variation Id: 449977
• ClinVar RCV Id: RCV000523904 ; RCV000563212
• dbSNP Id: rs1554827162

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101837_95101838delinsAA , CM000671.2:g.95101837_95101838delinsAA	GRCh38
NC_000009.11:g.97864119_97864120delinsAA , CM000671.1:g.97864119_97864120delinsAA	GRCh37
NC_000009.10:g.96903940_96903941delinsAA	NCBI36
NG_011707.1:g.220872_220873delinsTT , LRG_497:g.220872_220873delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+21057_410+21058delinsAA (AOPEP)
ENST00000696260.1:n.2361_2362delinsTT (FANCC)
ENST00000289081.8:c.1546_1547delinsTT (FANCC) MANE Select	ENSP00000289081.3:p.Ala516Phe
ENST00000375305.6:c.1546_1547delinsTT (FANCC)	ENSP00000364454.1:p.Ala516Phe
ENST00000649334.1:c.1691_1692delinsTT (FANCC)	ENSP00000497735.1:n.1691_1692delinsTT
ENST00000289081.7:c.1546_1547delinsTT (FANCC)	ENSP00000289081.3:p.Ala516Phe
ENST00000375305.5:c.1546_1547delinsTT (FANCC)	ENSP00000364454.1:p.Ala516Phe
NM_000136.2:c.1546_1547delinsTT , LRG_497t1:c.1546_1547delinsTT (FANCC)	NP_000127.2:p.Ala516Phe
NM_001243743.1:c.1546_1547delinsTT (FANCC)	NP_001230672.1:p.Ala516Phe
XM_005251802.2:c.865_866delinsTT (FANCC)	XP_005251859.1:p.Ala289Phe
XM_006717001.1:c.1381_1382delinsTT (FANCC)	XP_006717064.1:p.Ala461Phe
XM_011518365.1:c.1546_1547delinsTT (FANCC)	XP_011516667.1:p.Ala516Phe
XM_011518367.1:c.1090_1091delinsTT (FANCC)	XP_011516669.1:p.Ala364Phe
XM_011519121.1:c.2319+21057_2319+21058delinsAA (AOPEP)	XP_011517423.1:n.2319+21057_2319+21058delinsAA
XM_005251802.3:c.865_866delinsTT (FANCC)	XP_005251859.1:p.Ala289Phe
XM_006717001.3:c.1381_1382delinsTT (FANCC)	XP_006717064.1:p.Ala461Phe
XM_011518365.3:c.1546_1547delinsTT (FANCC)	XP_011516667.1:p.Ala516Phe
XM_011518367.2:c.1090_1091delinsTT (FANCC)	XP_011516669.1:p.Ala364Phe
XM_011519121.3:c.2319+21057_2319+21058delinsAA (AOPEP)	XP_011517423.1:n.2319+21057_2319+21058delinsAA
XM_017014452.2:c.1090_1091delinsTT (FANCC)	XP_016869941.1:p.Ala364Phe
XM_017014453.1:c.1090_1091delinsTT (FANCC)	XP_016869942.1:p.Ala364Phe
XM_017014454.1:c.925_926delinsTT (FANCC)	XP_016869943.1:p.Ala309Phe
XM_024447451.1:c.1546_1547delinsTT (FANCC)	XP_024303219.1:p.Ala516Phe
NM_000136.3:c.1546_1547delinsTT (FANCC) MANE Select	NP_000127.2:p.Ala516Phe
NM_001243743.2:c.1546_1547delinsTT (FANCC)	NP_001230672.1:p.Ala516Phe