Canonical Allele Identifier: CA2695201182
Community Standard Title: NM_000135.4(FANCA):c.3937del (p.Leu1313SerfsTer?)
Gene: FANCA HGNC NCBI
ZNF276 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89739552del , CM000678.2:g.89739552del GRCh38
NC_000016.9:g.89805960del , CM000678.1:g.89805960del GRCh37
NC_000016.8:g.88333461del NCBI36
NG_011706.1:g.82107del , LRG_495:g.82107del

Transcript Alleles

HGVS Amino-acid Change
NM_000135.4:c.3937del (FANCA) MANE Select NP_000126.2:p.Leu1313SerfsTer?
NM_001113525.2:c.*1306del (ZNF276) MANE Select NP_001106997.1:n.*1306del
ENST00000389301.8:c.3937del (FANCA) MANE Select ENSP00000373952.3:p.Leu1313SerfsTer?
ENST00000443381.7:c.*1306del (ZNF276) MANE Select ENSP00000415836.2:n.*1306del
NM_000135.2:c.3937del , LRG_495t1:c.3937del (FANCA) NP_000126.2:p.Leu1313SerfsTer?
NM_000135.3:c.3937del (FANCA) NP_000126.2:p.Leu1313SerfsTer?
NM_001113525.1:c.*1306del (ZNF276) NP_001106997.1:n.*1306del
NM_001286167.1:c.3937del (FANCA) NP_001273096.1:p.Leu1313SerfsTer?
NM_001286167.2:c.3937del (FANCA) NP_001273096.1:p.Leu1313SerfsTer?
NM_001286167.3:c.3937del (FANCA) NP_001273096.1:p.Leu1313SerfsTer?
NM_152287.3:c.*1306del (ZNF276) NP_689500.2:n.*1306del
NM_152287.4:c.*1306del (ZNF276) NP_689500.2:n.*1306del
NR_110122.1:n.3323del (ZNF276)
NR_110122.2:n.3306del (ZNF276)
NR_110126.1:n.3206del (ZNF276)
NR_110126.2:n.3189del (ZNF276)
NR_110128.1:n.3129del (ZNF276)
NR_110128.2:n.3129del (ZNF276)
NR_110129.1:n.3218del (ZNF276)
NR_110129.2:n.3223del (ZNF276)
ENST00000289816.9:c.*1306del (ZNF276) ENSP00000289816.5:n.*1306del
ENST00000389301.7:c.3937del (FANCA) ENSP00000373952.3:p.Leu1313SerfsTer?
ENST00000561667.2:c.*2510del (FANCA) ENSP00000512522.1:n.*2510del
ENST00000561722.5:c.88del (FANCA) ENSP00000456608.1:p.Leu30SerfsTer?
ENST00000562424.1:n.208del (FANCA)
ENST00000563983.5:n.3139del (ZNF276)
ENST00000564475.5:c.267del (FANCA)
ENST00000564475.6:c.3937del (FANCA) ENSP00000454977.2:p.Leu1313SerfsTer?
ENST00000564870.1:c.138del (FANCA)
ENST00000564969.5:n.662del (FANCA)
ENST00000567510.2:c.2507del (FANCA) ENSP00000455969.1:n.2507del
ENST00000567879.5:c.413-285del (FANCA) ENSP00000457006.1:n.413-285del
ENST00000568369.5:c.3937del (FANCA) ENSP00000456829.1:p.Leu1313SerfsTer?
ENST00000568369.6:c.3937del (FANCA) ENSP00000456829.1:p.Leu1313SerfsTer?
ENST00000568626.1:c.646del (FANCA)
ENST00000696274.1:n.3898del (FANCA)
ENST00000696275.1:c.*3172del (FANCA) ENSP00000512517.1:n.*3172del
ENST00000696286.1:c.3935-262del (FANCA) ENSP00000512523.1:n.3935-262del
ENST00000696287.1:c.3808del (FANCA) ENSP00000512524.1:p.Leu1270SerfsTer?
ENST00000696291.1:c.*3369del (FANCA) ENSP00000512530.1:n.*3369del
XM_005256294.3:c.3937del (FANCA) XP_005256351.1:p.Leu1313SerfsTer?
XM_005256294.4:c.3937del (FANCA) XP_005256351.1:p.Leu1313SerfsTer?
XM_011522945.1:c.3808del (FANCA) XP_011521247.1:p.Leu1270SerfsTer?
XM_011522945.2:c.3808del (FANCA) XP_011521247.1:p.Leu1270SerfsTer?
XM_011522946.1:c.2914del (FANCA) XP_011521248.1:p.Leu972SerfsTer?
XM_011522946.3:c.2914del (FANCA) XP_011521248.1:p.Leu972SerfsTer?
XM_011522947.1:c.2914del (FANCA) XP_011521249.1:p.Leu972SerfsTer?
XM_011522947.2:c.2914del (FANCA) XP_011521249.1:p.Leu972SerfsTer?
XM_017023044.2:c.3808del (FANCA) XP_016878533.1:p.Leu1270SerfsTer?
XM_017023890.1:c.*1306del (ZNF276) XP_016879379.1:n.*1306del
XM_024450189.1:c.2914del (FANCA) XP_024305957.1:p.Leu972SerfsTer?
XR_001751866.1:n.3807del (FANCA)
XR_933244.1:n.3978-262del (FANCA)
XR_933244.2:n.3978-262del (FANCA)
XR_933245.1:n.3841del (FANCA)
XR_933245.2:n.3841del (FANCA)
XR_933484.2:n.3317del (ZNF276)