Canonical Allele Identifier: CA2690785721

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95101765-C-CGA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95101765_95101766insGA , CM000671.2:g.95101765_95101766insGA	GRCh38
NC_000009.11:g.97864047_97864048insGA , CM000671.1:g.97864047_97864048insGA	GRCh37
NC_000009.10:g.96903868_96903869insGA	NCBI36
NG_011707.1:g.220944_220945insTC , LRG_497:g.220944_220945insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+20985_410+20986insGA (AOPEP)
ENST00000696260.1:n.2433_2434insTC (FANCC)
ENST00000289081.8:c.1618_1619insTC (FANCC) MANE Select	ENSP00000289081.3:p.Ser540IlefsTer?
ENST00000375305.6:c.1618_1619insTC (FANCC)	ENSP00000364454.1:p.Ser540IlefsTer?
ENST00000649334.1:c.1763_1764insTC (FANCC)	ENSP00000497735.1:n.1763_1764insTC
ENST00000289081.7:c.1618_1619insTC (FANCC)	ENSP00000289081.3:p.Ser540IlefsTer?
ENST00000375305.5:c.1618_1619insTC (FANCC)	ENSP00000364454.1:p.Ser540IlefsTer?
NM_000136.2:c.1618_1619insTC , LRG_497t1:c.1618_1619insTC (FANCC)	NP_000127.2:p.Ser540IlefsTer?
NM_001243743.1:c.1618_1619insTC (FANCC)	NP_001230672.1:p.Ser540IlefsTer?
XM_005251802.2:c.937_938insTC (FANCC)	XP_005251859.1:p.Ser313IlefsTer?
XM_006717001.1:c.1453_1454insTC (FANCC)	XP_006717064.1:p.Ser485IlefsTer?
XM_011518365.1:c.1618_1619insTC (FANCC)	XP_011516667.1:p.Ser540IlefsTer?
XM_011518367.1:c.1162_1163insTC (FANCC)	XP_011516669.1:p.Ser388IlefsTer?
XM_011519121.1:c.2319+20985_2319+20986insGA (AOPEP)	XP_011517423.1:n.2319+20985_2319+20986insGA
XM_005251802.3:c.937_938insTC (FANCC)	XP_005251859.1:p.Ser313IlefsTer?
XM_006717001.3:c.1453_1454insTC (FANCC)	XP_006717064.1:p.Ser485IlefsTer?
XM_011518365.3:c.1618_1619insTC (FANCC)	XP_011516667.1:p.Ser540IlefsTer?
XM_011518367.2:c.1162_1163insTC (FANCC)	XP_011516669.1:p.Ser388IlefsTer?
XM_011519121.3:c.2319+20985_2319+20986insGA (AOPEP)	XP_011517423.1:n.2319+20985_2319+20986insGA
XM_017014452.2:c.1162_1163insTC (FANCC)	XP_016869941.1:p.Ser388IlefsTer?
XM_017014453.1:c.1162_1163insTC (FANCC)	XP_016869942.1:p.Ser388IlefsTer?
XM_017014454.1:c.997_998insTC (FANCC)	XP_016869943.1:p.Ser333IlefsTer?
XM_024447451.1:c.1618_1619insTC (FANCC)	XP_024303219.1:p.Ser540IlefsTer?
NM_000136.3:c.1618_1619insTC (FANCC) MANE Select	NP_000127.2:p.Ser540IlefsTer?
NM_001243743.2:c.1618_1619insTC (FANCC)	NP_001230672.1:p.Ser540IlefsTer?