Canonical Allele Identifier: CA2695238479

Gene: F8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997011_154997017del , CM000685.2:g.154997011_154997017del	GRCh38
NC_000023.10:g.154225286_154225292del , CM000685.1:g.154225286_154225292del	GRCh37
NC_000023.9:g.153878480_153878486del	NCBI36
NG_011403.1:g.30710_30716del
NG_011403.2:g.30710_30716del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.347_353del MANE Select	ENSP00000353393.4:p.Ser116MetfsTer?
ENST00000647125.1:c.*133_*139del	ENSP00000496062.1:n.*133_*139del
ENST00000360256.8:c.347_353del	ENSP00000353393.4:p.Ser116MetfsTer?
ENST00000423959.5:c.242_248del	ENSP00000409446.1:p.Ser81MetfsTer?
ENST00000453950.1:c.329_335del	ENSP00000389153.1:p.Ser110MetfsTer?
NM_000132.3:c.347_353del	NP_000123.1:p.Ser116MetfsTer?
XM_011531126.1:c.242_248del	XP_011529428.1:p.Ser81MetfsTer?
NM_000132.4:c.347_353del MANE Select	NP_000123.1:p.Ser116MetfsTer?