Canonical Allele Identifier: CA2466814980
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs2072681686

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860452_154860455del , CM000685.2:g.154860452_154860455del GRCh38
NC_000023.10:g.154088727_154088730del , CM000685.1:g.154088727_154088730del GRCh37
NC_000023.9:g.153741921_153741924del NCBI36
NG_011403.1:g.167271_167274del
NG_011403.2:g.167271_167274del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6879_6882del MANE Select ENSP00000353393.4:p.Phe2294ArgfsTer5
ENST00000644698.1:c.612_615del ENSP00000495706.1:p.Phe205ArgfsTer5
ENST00000330287.10:c.474_477del ENSP00000327895.6:p.Phe159ArgfsTer5
ENST00000360256.8:c.6879_6882del ENSP00000353393.4:p.Phe2294ArgfsTer5
NM_000132.3:c.6879_6882del NP_000123.1:p.Phe2294ArgfsTer5
NM_019863.2:c.474_477del NP_063916.1:p.Phe159ArgfsTer5
XM_011531126.1:c.6774_6777del XP_011529428.1:p.Phe2259ArgfsTer5
NM_000132.4:c.6879_6882del MANE Select NP_000123.1:p.Phe2294ArgfsTer5
NM_019863.3:c.474_477del NP_063916.1:p.Phe159ArgfsTer5