Canonical Allele Identifier: CA2573152910
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Linked Data

ClinVar Variation Id: 1618429
ClinVar RCV Id: RCV002093916
dbSNP Id: rs2151713121

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739568_89739569delinsGA , CM000678.2:g.89739568_89739569delinsGA GRCh38
NC_000016.9:g.89805976_89805977delinsGA , CM000678.1:g.89805976_89805977delinsGA GRCh37
NC_000016.8:g.88333477_88333478delinsGA NCBI36
NG_011706.1:g.82089_82090delinsTC , LRG_495:g.82089_82090delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000561667.2:c.*2508-16_*2508-15delinsTC (FANCA) ENSP00000512522.1:n.*2508-16_*2508-15delinsTC
ENST00000564475.6:c.3935-16_3935-15delinsTC (FANCA) ENSP00000454977.2:n.3935-16_3935-15delinsTC
ENST00000567510.2:c.2505-16_2505-15delinsTC (FANCA) ENSP00000455969.1:n.2505-16_2505-15delinsTC
ENST00000568369.6:c.3935-16_3935-15delinsTC (FANCA) ENSP00000456829.1:n.3935-16_3935-15delinsTC
ENST00000696274.1:n.3896-16_3896-15delinsTC (FANCA)
ENST00000696275.1:c.*3170-16_*3170-15delinsTC (FANCA) ENSP00000512517.1:n.*3170-16_*3170-15delinsTC
ENST00000696286.1:c.3935-280_3935-279delinsTC (FANCA) ENSP00000512523.1:n.3935-280_3935-279delinsTC
ENST00000696287.1:c.3806-16_3806-15delinsTC (FANCA) ENSP00000512524.1:n.3806-16_3806-15delinsTC
ENST00000696291.1:c.*3367-16_*3367-15delinsTC (FANCA) ENSP00000512530.1:n.*3367-16_*3367-15delinsTC
ENST00000389301.8:c.3935-16_3935-15delinsTC (FANCA) MANE Select ENSP00000373952.3:n.3935-16_3935-15delinsTC
ENST00000443381.7:c.*1322_*1323delinsGA (ZNF276) MANE Select ENSP00000415836.2:n.*1322_*1323delinsGA
ENST00000289816.9:c.*1322_*1323delinsGA (ZNF276) ENSP00000289816.5:n.*1322_*1323delinsGA
ENST00000389301.7:c.3935-16_3935-15delinsTC (FANCA) ENSP00000373952.3:n.3935-16_3935-15delinsTC
ENST00000561722.5:c.86-16_86-15delinsTC (FANCA) ENSP00000456608.1:n.86-16_86-15delinsTC
ENST00000562424.1:n.190_191delinsTC (FANCA)
ENST00000563983.5:n.3155_3156delinsGA (ZNF276)
ENST00000564475.5:c.265-16_265-15delinsTC (FANCA)
ENST00000564870.1:c.136-16_136-15delinsTC (FANCA)
ENST00000564969.5:n.644_645delinsTC (FANCA)
ENST00000567879.5:c.413-303_413-302delinsTC (FANCA) ENSP00000457006.1:n.413-303_413-302delinsTC
ENST00000568369.5:c.3935-16_3935-15delinsTC (FANCA) ENSP00000456829.1:n.3935-16_3935-15delinsTC
ENST00000568626.1:c.644-16_644-15delinsTC (FANCA)
NM_000135.2:c.3935-16_3935-15delinsTC , LRG_495t1:c.3935-16_3935-15delinsTC (FANCA) NP_000126.2:n.3935-16_3935-15delinsTC
NM_001113525.1:c.*1322_*1323delinsGA (ZNF276) NP_001106997.1:n.*1322_*1323delinsGA
NM_001286167.1:c.3935-16_3935-15delinsTC (FANCA) NP_001273096.1:n.3935-16_3935-15delinsTC
NM_152287.3:c.*1322_*1323delinsGA (ZNF276) NP_689500.2:n.*1322_*1323delinsGA
NR_110122.1:n.3339_3340delinsGA (ZNF276)
NR_110126.1:n.3222_3223delinsGA (ZNF276)
NR_110128.1:n.3145_3146delinsGA (ZNF276)
NR_110129.1:n.3234_3235delinsGA (ZNF276)
XM_005256294.3:c.3935-16_3935-15delinsTC (FANCA) XP_005256351.1:n.3935-16_3935-15delinsTC
XM_011522945.1:c.3806-16_3806-15delinsTC (FANCA) XP_011521247.1:n.3806-16_3806-15delinsTC
XM_011522946.1:c.2912-16_2912-15delinsTC (FANCA) XP_011521248.1:n.2912-16_2912-15delinsTC
XM_011522947.1:c.2912-16_2912-15delinsTC (FANCA) XP_011521249.1:n.2912-16_2912-15delinsTC
XR_933244.1:n.3978-280_3978-279delinsTC (FANCA)
XR_933245.1:n.3839-16_3839-15delinsTC (FANCA)
NM_000135.3:c.3935-16_3935-15delinsTC (FANCA) NP_000126.2:n.3935-16_3935-15delinsTC
NM_001286167.2:c.3935-16_3935-15delinsTC (FANCA) NP_001273096.1:n.3935-16_3935-15delinsTC
XM_005256294.4:c.3935-16_3935-15delinsTC (FANCA) XP_005256351.1:n.3935-16_3935-15delinsTC
XM_011522945.2:c.3806-16_3806-15delinsTC (FANCA) XP_011521247.1:n.3806-16_3806-15delinsTC
XM_011522946.3:c.2912-16_2912-15delinsTC (FANCA) XP_011521248.1:n.2912-16_2912-15delinsTC
XM_011522947.2:c.2912-16_2912-15delinsTC (FANCA) XP_011521249.1:n.2912-16_2912-15delinsTC
XM_017023044.2:c.3806-16_3806-15delinsTC (FANCA) XP_016878533.1:n.3806-16_3806-15delinsTC
XM_017023890.1:c.*1322_*1323delinsGA (ZNF276) XP_016879379.1:n.*1322_*1323delinsGA
XM_024450189.1:c.2912-16_2912-15delinsTC (FANCA) XP_024305957.1:n.2912-16_2912-15delinsTC
XR_001751866.1:n.3805-16_3805-15delinsTC (FANCA)
XR_933244.2:n.3978-280_3978-279delinsTC (FANCA)
XR_933245.2:n.3839-16_3839-15delinsTC (FANCA)
XR_933484.2:n.3333_3334delinsGA (ZNF276)
NM_000135.4:c.3935-16_3935-15delinsTC (FANCA) MANE Select NP_000126.2:n.3935-16_3935-15delinsTC
NM_001113525.2:c.*1322_*1323delinsGA (ZNF276) MANE Select NP_001106997.1:n.*1322_*1323delinsGA
NM_001286167.3:c.3935-16_3935-15delinsTC (FANCA) NP_001273096.1:n.3935-16_3935-15delinsTC
NM_152287.4:c.*1322_*1323delinsGA (ZNF276) NP_689500.2:n.*1322_*1323delinsGA
NR_110122.2:n.3322_3323delinsGA (ZNF276)
NR_110126.2:n.3205_3206delinsGA (ZNF276)
NR_110129.2:n.3239_3240delinsGA (ZNF276)
NR_110128.2:n.3145_3146delinsGA (ZNF276)