Canonical Allele Identifier: CA2466807449

Gene: F8

Linked Data

• dbSNP Id: rs2072485445

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837702del , CM000685.2:g.154837702del	GRCh38
NC_000023.10:g.154065977del , CM000685.1:g.154065977del	GRCh37
NC_000023.9:g.153719171del	NCBI36
NG_011403.1:g.190024del
NG_033065.1:g.1963del
NG_011403.2:g.190024del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6953del MANE Select	ENSP00000353393.4:p.Pro2318HisfsTer4
ENST00000644698.1:c.686del	ENSP00000495706.1:p.Pro229HisfsTer4
ENST00000330287.10:c.548del	ENSP00000327895.6:p.Pro183HisfsTer4
ENST00000360256.8:c.6953del	ENSP00000353393.4:p.Pro2318HisfsTer4
NM_000132.3:c.6953del	NP_000123.1:p.Pro2318HisfsTer4
NM_019863.2:c.548del	NP_063916.1:p.Pro183HisfsTer4
XM_011531126.1:c.6848del	XP_011529428.1:p.Pro2283HisfsTer4
NM_000132.4:c.6953del MANE Select	NP_000123.1:p.Pro2318HisfsTer4
NM_019863.3:c.548del	NP_063916.1:p.Pro183HisfsTer4