Canonical Allele Identifier: CA2579744706
Gene: F8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957132del , CM000685.2:g.154957132del GRCh38
NC_000023.10:g.154185407del , CM000685.1:g.154185407del GRCh37
NC_000023.9:g.153838601del NCBI36
NG_011403.1:g.70594del
NG_011403.2:g.70594del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1579del MANE Select ENSP00000353393.4:p.Ile527TyrfsTer8
ENST00000647125.1:c.*1455del ENSP00000496062.1:n.*1455del
ENST00000360256.8:c.1579del ENSP00000353393.4:p.Ile527TyrfsTer8
NM_000132.3:c.1579del NP_000123.1:p.Ile527TyrfsTer8
XM_011531126.1:c.1474del XP_011529428.1:p.Ile492TyrfsTer8
NM_000132.4:c.1579del MANE Select NP_000123.1:p.Ile527TyrfsTer8
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