Canonical Allele Identifier: CA1126970487

Gene: AOPEP FANCC

Linked Data

• dbSNP Id: rs2071521049
• gnomAD v3: 9-95107278-TAGTA-T
• gnomAD v4: 9-95107278-TAGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.95107279_95107282del , CM000671.2:g.95107279_95107282del	GRCh38
NC_000009.11:g.97869561_97869564del , CM000671.1:g.97869561_97869564del	GRCh37
NC_000009.10:g.96909382_96909385del	NCBI36
NG_011707.1:g.215428_215431del , LRG_497:g.215428_215431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710812.1:n.410+26499_410+26502del (AOPEP)
ENST00000696260.1:n.2145-13_2145-10del (FANCC)
ENST00000289081.8:c.1330-13_1330-10del (FANCC) MANE Select	ENSP00000289081.3:n.1330-13_1330-10del
ENST00000375305.6:c.1330-13_1330-10del (FANCC)	ENSP00000364454.1:n.1330-13_1330-10del
ENST00000649334.1:c.1475-13_1475-10del (FANCC)	ENSP00000497735.1:n.1475-13_1475-10del
ENST00000289081.7:c.1330-13_1330-10del (FANCC)	ENSP00000289081.3:n.1330-13_1330-10del
ENST00000375305.5:c.1330-13_1330-10del (FANCC)	ENSP00000364454.1:n.1330-13_1330-10del
ENST00000464627.5:n.657-13_657-10del (FANCC)
NM_000136.2:c.1330-13_1330-10del , LRG_497t1:c.1330-13_1330-10del (FANCC)	NP_000127.2:n.1330-13_1330-10del
NM_001243743.1:c.1330-13_1330-10del (FANCC)	NP_001230672.1:n.1330-13_1330-10del
XM_005251802.2:c.649-13_649-10del (FANCC)	XP_005251859.1:n.649-13_649-10del
XM_006717001.1:c.1165-13_1165-10del (FANCC)	XP_006717064.1:n.1165-13_1165-10del
XM_011518365.1:c.1330-13_1330-10del (FANCC)	XP_011516667.1:n.1330-13_1330-10del
XM_011518367.1:c.874-13_874-10del (FANCC)	XP_011516669.1:n.874-13_874-10del
XM_011519121.1:c.2319+26499_2319+26502del (AOPEP)	XP_011517423.1:n.2319+26499_2319+26502del
XM_005251802.3:c.649-13_649-10del (FANCC)	XP_005251859.1:n.649-13_649-10del
XM_006717001.3:c.1165-13_1165-10del (FANCC)	XP_006717064.1:n.1165-13_1165-10del
XM_011518365.3:c.1330-13_1330-10del (FANCC)	XP_011516667.1:n.1330-13_1330-10del
XM_011518367.2:c.874-13_874-10del (FANCC)	XP_011516669.1:n.874-13_874-10del
XM_011519121.3:c.2319+26499_2319+26502del (AOPEP)	XP_011517423.1:n.2319+26499_2319+26502del
XM_017014452.2:c.874-13_874-10del (FANCC)	XP_016869941.1:n.874-13_874-10del
XM_017014453.1:c.874-13_874-10del (FANCC)	XP_016869942.1:n.874-13_874-10del
XM_017014454.1:c.709-13_709-10del (FANCC)	XP_016869943.1:n.709-13_709-10del
XM_024447451.1:c.1330-13_1330-10del (FANCC)	XP_024303219.1:n.1330-13_1330-10del
XR_001746847.1:n.697_700del
NM_000136.3:c.1330-13_1330-10del (FANCC) MANE Select	NP_000127.2:n.1330-13_1330-10del
NM_001243743.2:c.1330-13_1330-10del (FANCC)	NP_001230672.1:n.1330-13_1330-10del