Canonical Allele Identifier: CA2695237114

Gene: F8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837706dup , CM000685.2:g.154837706dup	GRCh38
NC_000023.10:g.154065981dup , CM000685.1:g.154065981dup	GRCh37
NC_000023.9:g.153719175dup	NCBI36
NG_011403.1:g.190018dup
NG_033065.1:g.1957dup
NG_011403.2:g.190018dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000132.4:c.6947dup MANE Select	NP_000123.1:p.Asp2317ArgfsTer?
ENST00000360256.9:c.6947dup MANE Select	ENSP00000353393.4:p.Asp2317ArgfsTer?
NM_000132.3:c.6947dup	NP_000123.1:p.Asp2317ArgfsTer?
NM_019863.2:c.542dup	NP_063916.1:p.Asp182ArgfsTer?
NM_019863.3:c.542dup	NP_063916.1:p.Asp182ArgfsTer?
ENST00000330287.10:c.542dup	ENSP00000327895.6:p.Asp182ArgfsTer?
ENST00000360256.8:c.6947dup	ENSP00000353393.4:p.Asp2317ArgfsTer?
ENST00000644698.1:c.680dup	ENSP00000495706.1:p.Asp228ArgfsTer?
XM_011531126.1:c.6842dup	XP_011529428.1:p.Asp2282ArgfsTer?