Canonical Allele Identifier: CA2499221959
Community Standard Title: NM_000504.4(F10):c.513del (p.Cys172ValfsTer?)
Gene: F10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113143861del , CM000675.2:g.113143861del GRCh38
NC_000013.10:g.113798175del , CM000675.1:g.113798175del GRCh37
NC_000013.9:g.112846176del NCBI36
NG_009258.1:g.26063del , LRG_548:g.26063del

Transcript Alleles

HGVS Amino-acid Change
NM_000504.4:c.513del MANE Select NP_000495.1:p.Cys172ValfsTer?
ENST00000375559.8:c.513del MANE Select ENSP00000364709.3:p.Cys172ValfsTer?
NM_000504.3:c.513del , LRG_548t1:c.513del NP_000495.1:p.Cys172ValfsTer?
NM_001312674.1:c.381del NP_001299603.1:p.Cys128ValfsTer?
NM_001312674.2:c.381del NP_001299603.1:p.Cys128ValfsTer?
NM_001312675.1:c.513del NP_001299604.1:p.Cys172ValfsTer?
NM_001312675.2:c.513del NP_001299604.1:p.Cys172ValfsTer?
ENST00000375551.7:c.513del ENSP00000364701.3:p.Cys172ValfsTer?
ENST00000375559.7:c.513del ENSP00000364709.3:p.Cys172ValfsTer?
ENST00000409306.5:c.513del ENSP00000387092.1:p.Cys172ValfsTer?
ENST00000410083.6:c.*472del ENSP00000386320.2:n.*472del
ENST00000477269.5:n.550del
ENST00000498455.1:n.542del