Canonical Allele Identifier: CA2690789440

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95111513-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95111514_95111515insTC , CM000671.2:g.95111514_95111515insTC	GRCh38
NC_000009.11:g.97873796_97873797insTC , CM000671.1:g.97873796_97873797insTC	GRCh37
NC_000009.10:g.96913617_96913618insTC	NCBI36
NG_011707.1:g.211196_211197insAG , LRG_497:g.211196_211197insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+30734_410+30735insTC (AOPEP)
ENST00000696260.1:n.2093_2094insAG (FANCC)
ENST00000289081.8:c.1278_1279insAG (FANCC) MANE Select	ENSP00000289081.3:p.Ala427ArgfsTer21
ENST00000375305.6:c.1278_1279insAG (FANCC)	ENSP00000364454.1:p.Ala427ArgfsTer21
ENST00000490972.7:c.1278_1279insAG (FANCC)	ENSP00000479931.1:p.Ala427ArgfsTer18
ENST00000649334.1:c.1423_1424insAG (FANCC)	ENSP00000497735.1:n.1423_1424insAG
ENST00000289081.7:c.1278_1279insAG (FANCC)	ENSP00000289081.3:p.Ala427ArgfsTer21
ENST00000375305.5:c.1278_1279insAG (FANCC)	ENSP00000364454.1:p.Ala427ArgfsTer21
ENST00000464627.5:n.605_606insAG (FANCC)
ENST00000477942.5:n.633_634insAG (FANCC)
ENST00000480712.5:n.463_464insAG (FANCC)
ENST00000490972.6:c.1278_1279insAG (FANCC)	ENSP00000479931.1:p.Ala427ArgfsTer18
NM_000136.2:c.1278_1279insAG , LRG_497t1:c.1278_1279insAG (FANCC)	NP_000127.2:p.Ala427ArgfsTer21
NM_001243743.1:c.1278_1279insAG (FANCC)	NP_001230672.1:p.Ala427ArgfsTer21
NM_001243744.1:c.1278_1279insAG (FANCC)	NP_001230673.1:p.Ala427ArgfsTer18
XM_005251802.2:c.597_598insAG (FANCC)	XP_005251859.1:p.Ala200ArgfsTer21
XM_006717001.1:c.1113_1114insAG (FANCC)	XP_006717064.1:p.Ala372ArgfsTer21
XM_006717002.2:c.1278_1279insAG (FANCC)	XP_006717065.1:p.Ala427ArgfsTer26
XM_011518365.1:c.1278_1279insAG (FANCC)	XP_011516667.1:p.Ala427ArgfsTer21
XM_011518366.1:c.1278_1279insAG (FANCC)	XP_011516668.1:p.Ala427ArgfsTer?
XM_011518367.1:c.822_823insAG (FANCC)	XP_011516669.1:p.Ala275ArgfsTer21
XM_011519121.1:c.2319+30734_2319+30735insTC (AOPEP)	XP_011517423.1:n.2319+30734_2319+30735insTC
XM_005251802.3:c.597_598insAG (FANCC)	XP_005251859.1:p.Ala200ArgfsTer21
XM_006717001.3:c.1113_1114insAG (FANCC)	XP_006717064.1:p.Ala372ArgfsTer21
XM_006717002.4:c.1278_1279insAG (FANCC)	XP_006717065.1:p.Ala427ArgfsTer26
XM_011518365.3:c.1278_1279insAG (FANCC)	XP_011516667.1:p.Ala427ArgfsTer21
XM_011518366.3:c.1278_1279insAG (FANCC)	XP_011516668.1:p.Ala427ArgfsTer?
XM_011518367.2:c.822_823insAG (FANCC)	XP_011516669.1:p.Ala275ArgfsTer21
XM_011519121.3:c.2319+30734_2319+30735insTC (AOPEP)	XP_011517423.1:n.2319+30734_2319+30735insTC
XM_017014452.2:c.822_823insAG (FANCC)	XP_016869941.1:p.Ala275ArgfsTer21
XM_017014453.1:c.822_823insAG (FANCC)	XP_016869942.1:p.Ala275ArgfsTer21
XM_017014454.1:c.657_658insAG (FANCC)	XP_016869943.1:p.Ala220ArgfsTer21
XM_024447451.1:c.1278_1279insAG (FANCC)	XP_024303219.1:p.Ala427ArgfsTer21
NM_000136.3:c.1278_1279insAG (FANCC) MANE Select	NP_000127.2:p.Ala427ArgfsTer21
NM_001243743.2:c.1278_1279insAG (FANCC)	NP_001230672.1:p.Ala427ArgfsTer21
NM_001243744.2:c.1278_1279insAG (FANCC)	NP_001230673.1:p.Ala427ArgfsTer18