Canonical Allele Identifier: CA2695237253
Gene: F8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154956994del , CM000685.2:g.154956994del GRCh38
NC_000023.10:g.154185269del , CM000685.1:g.154185269del GRCh37
NC_000023.9:g.153838463del NCBI36
NG_011403.1:g.70730del
NG_011403.2:g.70730del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1715del MANE Select ENSP00000353393.4:p.Ile572ThrfsTer7
ENST00000647125.1:c.*1591del ENSP00000496062.1:n.*1591del
ENST00000360256.8:c.1715del ENSP00000353393.4:p.Ile572ThrfsTer7
NM_000132.3:c.1715del NP_000123.1:p.Ile572ThrfsTer7
XM_011531126.1:c.1610del XP_011529428.1:p.Ile537ThrfsTer7
NM_000132.4:c.1715del MANE Select NP_000123.1:p.Ile572ThrfsTer7
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