Canonical Allele Identifier: CA2690788016

Gene: AOPEP FANCC

Linked Data

• gnomAD v4: 9-95106929-A-AGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95106929_95106930insGGTT , CM000671.2:g.95106929_95106930insGGTT	GRCh38
NC_000009.11:g.97869211_97869212insGGTT , CM000671.1:g.97869211_97869212insGGTT	GRCh37
NC_000009.10:g.96909032_96909033insGGTT	NCBI36
NG_011707.1:g.215780_215781insAACC , LRG_497:g.215780_215781insAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26149_410+26150insGGTT (AOPEP)
ENST00000696260.1:n.2348+136_2348+137insAACC (FANCC)
ENST00000289081.8:c.1533+136_1533+137insAACC (FANCC) MANE Select	ENSP00000289081.3:n.1533+136_1533+137insAACC
ENST00000375305.6:c.1533+136_1533+137insAACC (FANCC)	ENSP00000364454.1:n.1533+136_1533+137insAACC
ENST00000649334.1:c.1678+136_1678+137insAACC (FANCC)	ENSP00000497735.1:n.1678+136_1678+137insAACC
ENST00000289081.7:c.1533+136_1533+137insAACC (FANCC)	ENSP00000289081.3:n.1533+136_1533+137insAACC
ENST00000375305.5:c.1533+136_1533+137insAACC (FANCC)	ENSP00000364454.1:n.1533+136_1533+137insAACC
NM_000136.2:c.1533+136_1533+137insAACC , LRG_497t1:c.1533+136_1533+137insAACC (FANCC)	NP_000127.2:n.1533+136_1533+137insAACC
NM_001243743.1:c.1533+136_1533+137insAACC (FANCC)	NP_001230672.1:n.1533+136_1533+137insAACC
XM_005251802.2:c.852+136_852+137insAACC (FANCC)	XP_005251859.1:n.852+136_852+137insAACC
XM_006717001.1:c.1368+136_1368+137insAACC (FANCC)	XP_006717064.1:n.1368+136_1368+137insAACC
XM_011518365.1:c.1533+136_1533+137insAACC (FANCC)	XP_011516667.1:n.1533+136_1533+137insAACC
XM_011518367.1:c.1077+136_1077+137insAACC (FANCC)	XP_011516669.1:n.1077+136_1077+137insAACC
XM_011519121.1:c.2319+26149_2319+26150insGGTT (AOPEP)	XP_011517423.1:n.2319+26149_2319+26150insGGTT
XM_005251802.3:c.852+136_852+137insAACC (FANCC)	XP_005251859.1:n.852+136_852+137insAACC
XM_006717001.3:c.1368+136_1368+137insAACC (FANCC)	XP_006717064.1:n.1368+136_1368+137insAACC
XM_011518365.3:c.1533+136_1533+137insAACC (FANCC)	XP_011516667.1:n.1533+136_1533+137insAACC
XM_011518367.2:c.1077+136_1077+137insAACC (FANCC)	XP_011516669.1:n.1077+136_1077+137insAACC
XM_011519121.3:c.2319+26149_2319+26150insGGTT (AOPEP)	XP_011517423.1:n.2319+26149_2319+26150insGGTT
XM_017014452.2:c.1077+136_1077+137insAACC (FANCC)	XP_016869941.1:n.1077+136_1077+137insAACC
XM_017014453.1:c.1077+136_1077+137insAACC (FANCC)	XP_016869942.1:n.1077+136_1077+137insAACC
XM_017014454.1:c.912+136_912+137insAACC (FANCC)	XP_016869943.1:n.912+136_912+137insAACC
XM_024447451.1:c.1533+136_1533+137insAACC (FANCC)	XP_024303219.1:n.1533+136_1533+137insAACC
XR_001746847.1:n.347_348insGGTT
NM_000136.3:c.1533+136_1533+137insAACC (FANCC) MANE Select	NP_000127.2:n.1533+136_1533+137insAACC
NM_001243743.2:c.1533+136_1533+137insAACC (FANCC)	NP_001230672.1:n.1533+136_1533+137insAACC