Canonical Allele Identifier: CA2695237236

Gene: F8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154953954_154953957delinsGGAATATACAC , CM000685.2:g.154953954_154953957delinsGGAATATACAC	GRCh38
NC_000023.10:g.154182229_154182232delinsGGAATATACAC , CM000685.1:g.154182229_154182232delinsGGAATATACAC	GRCh37
NC_000023.9:g.153835423_153835426delinsGGAATATACAC	NCBI36
NG_011403.1:g.73767_73770delinsGTGTATATTCC
NG_011403.2:g.73767_73770delinsGTGTATATTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1838_1841delinsGTGTATATTCC MANE Select	ENSP00000353393.4:p.Phe613CysfsTer13
ENST00000647125.1:c.*1714_*1717delinsGTGTATATTCC	ENSP00000496062.1:n.*1714_*1717delinsGTGTATATTCC
ENST00000360256.8:c.1838_1841delinsGTGTATATTCC	ENSP00000353393.4:p.Phe613CysfsTer13
NM_000132.3:c.1838_1841delinsGTGTATATTCC	NP_000123.1:p.Phe613CysfsTer13
XM_011531126.1:c.1733_1736delinsGTGTATATTCC	XP_011529428.1:p.Phe578CysfsTer13
NM_000132.4:c.1838_1841delinsGTGTATATTCC MANE Select	NP_000123.1:p.Phe613CysfsTer13