Canonical Allele Identifier: CA2695237164
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154863091_154863092del , CM000685.2:g.154863091_154863092del GRCh38
NC_000023.10:g.154091366_154091367del , CM000685.1:g.154091366_154091367del GRCh37
NC_000023.9:g.153744560_153744561del NCBI36
NG_011403.1:g.164632_164633del
NG_011403.2:g.164632_164633del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6565_6566del MANE Select ENSP00000353393.4:p.Asp2189PhefsTer3
ENST00000644698.1:c.298_299del ENSP00000495706.1:p.Asp100PhefsTer3
ENST00000330287.10:c.160_161del ENSP00000327895.6:p.Asp54PhefsTer3
ENST00000360256.8:c.6565_6566del ENSP00000353393.4:p.Asp2189PhefsTer3
NM_000132.3:c.6565_6566del NP_000123.1:p.Asp2189PhefsTer3
NM_019863.2:c.160_161del NP_063916.1:p.Asp54PhefsTer3
XM_011531126.1:c.6460_6461del XP_011529428.1:p.Asp2154PhefsTer3
NM_000132.4:c.6565_6566del MANE Select NP_000123.1:p.Asp2189PhefsTer3
NM_019863.3:c.160_161del NP_063916.1:p.Asp54PhefsTer3