Canonical Allele Identifier: CA2690792854

Gene: FANCC

Linked Data

• gnomAD v4: 9-95249173-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95249175_95249176del , CM000671.2:g.95249175_95249176del	GRCh38
NC_000009.11:g.98011457_98011458del , CM000671.1:g.98011457_98011458del	GRCh37
NC_000009.10:g.97051278_97051279del	NCBI36
NG_011707.1:g.73535_73536del , LRG_497:g.73535_73536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696261.1:n.363_364del
ENST00000696262.1:c.117_118del	ENSP00000512510.1:p.Gln40ValfsTer10
ENST00000696263.1:n.372_373del
ENST00000289081.8:c.117_118del MANE Select	ENSP00000289081.3:p.Gln40ValfsTer10
ENST00000375305.6:c.117_118del	ENSP00000364454.1:p.Gln40ValfsTer10
ENST00000490972.7:c.117_118del	ENSP00000479931.1:p.Gln40ValfsTer10
ENST00000636777.1:n.175_176del
ENST00000647778.1:c.117_118del	ENSP00000498125.1:p.Gln40ValfsTer10
ENST00000647882.1:c.117_118del	ENSP00000497025.1:p.Gln40ValfsTer10
ENST00000648415.1:n.1755_1756del
ENST00000649334.1:c.117_118del	ENSP00000497735.1:p.Gln40ValfsTer10
ENST00000649519.1:c.117_118del	ENSP00000497630.1:p.Gln40ValfsTer10
ENST00000649611.1:c.117_118del	ENSP00000497986.1:p.Gln40ValfsTer10
ENST00000649872.1:c.117_118del	ENSP00000497195.1:p.Gln40ValfsTer10
ENST00000650176.1:n.297_298del
ENST00000289081.7:c.117_118del	ENSP00000289081.3:p.Gln40ValfsTer10
ENST00000375305.5:c.117_118del	ENSP00000364454.1:p.Gln40ValfsTer10
ENST00000433829.1:c.117_118del	ENSP00000406908.1:p.Gln40ValfsTer10
ENST00000474949.1:n.379_380del
ENST00000490972.6:c.117_118del	ENSP00000479931.1:p.Gln40ValfsTer10
NM_000136.2:c.117_118del , LRG_497t1:c.117_118del	NP_000127.2:p.Gln40ValfsTer10
NM_001243743.1:c.117_118del	NP_001230672.1:p.Gln40ValfsTer10
NM_001243744.1:c.117_118del	NP_001230673.1:p.Gln40ValfsTer10
XM_006717001.1:c.117_118del	XP_006717064.1:p.Gln40ValfsTer10
XM_006717002.2:c.117_118del	XP_006717065.1:p.Gln40ValfsTer10
XM_006717004.2:c.117_118del	XP_006717067.1:p.Gln40ValfsTer10
XM_011518365.1:c.117_118del	XP_011516667.1:p.Gln40ValfsTer10
XM_011518366.1:c.117_118del	XP_011516668.1:p.Gln40ValfsTer10
XM_011518367.1:c.-485_-484del	XP_011516669.1:n.-485_-484del
XM_006717001.3:c.117_118del	XP_006717064.1:p.Gln40ValfsTer10
XM_006717002.4:c.117_118del	XP_006717065.1:p.Gln40ValfsTer10
XM_006717004.4:c.117_118del	XP_006717067.1:p.Gln40ValfsTer10
XM_011518365.3:c.117_118del	XP_011516667.1:p.Gln40ValfsTer10
XM_011518366.3:c.117_118del	XP_011516668.1:p.Gln40ValfsTer10
XM_011518367.2:c.-485_-484del	XP_011516669.1:n.-485_-484del
XM_017014452.2:c.-485_-484del	XP_016869941.1:n.-485_-484del
XM_017014453.1:c.-485_-484del	XP_016869942.1:n.-485_-484del
XM_017014454.1:c.-485_-484del	XP_016869943.1:n.-485_-484del
XM_024447451.1:c.117_118del	XP_024303219.1:p.Gln40ValfsTer10
NM_000136.3:c.117_118del MANE Select	NP_000127.2:p.Gln40ValfsTer10
NM_001243743.2:c.117_118del	NP_001230672.1:p.Gln40ValfsTer10
NM_001243744.2:c.117_118del	NP_001230673.1:p.Gln40ValfsTer10