Canonical Allele Identifier: CA2565883067

Gene: F8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154903948_154903949insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCTAGTTTTTCCAGTAGGCGACCGCTAATACTTCCTTCT , CM000685.2:g.154903948_154903949insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCTAGTTTTTCCAGTAGGCGACCGCTAATACTTCCTTCT	GRCh38
NC_000023.10:g.154132223_154132224insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCTAGTTTTTCCAGTAGGCGACCGCTAATACTTCCTTCT , CM000685.1:g.154132223_154132224insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCTAGTTTTTCCAGTAGGCGACCGCTAATACTTCCTTCT	GRCh37
NC_000023.9:g.153785417_153785418insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCTAGTTTTTCCAGTAGGCGACCGCTAATACTTCCTTCT	NCBI36
NG_011403.1:g.123776_123777insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA
NG_011403.2:g.123776_123777insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5956_5957insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA MANE Select	ENSP00000353393.4:p.Lys1986ArgfsTer5
ENST00000360256.8:c.5956_5957insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA	ENSP00000353393.4:p.Lys1986ArgfsTer5
NM_000132.3:c.5956_5957insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA	NP_000123.1:p.Lys1986ArgfsTer5
XM_011531126.1:c.5851_5852insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA	XP_011529428.1:p.Lys1951ArgfsTer5
NM_000132.4:c.5956_5957insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA MANE Select	NP_000123.1:p.Lys1986ArgfsTer5