Canonical Allele Identifier: CA2695237827
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154896164del , CM000685.2:g.154896164del GRCh38
NC_000023.10:g.154124439del , CM000685.1:g.154124439del GRCh37
NC_000023.9:g.153777633del NCBI36
NG_011403.1:g.131561del
NG_011403.2:g.131561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6343del MANE Select ENSP00000353393.4:p.Leu2115SerfsTer28
ENST00000360256.8:c.6343del ENSP00000353393.4:p.Leu2115SerfsTer28
NM_000132.3:c.6343del NP_000123.1:p.Leu2115SerfsTer28
XM_011531126.1:c.6238del XP_011529428.1:p.Leu2080SerfsTer28
NM_000132.4:c.6343del MANE Select NP_000123.1:p.Leu2115SerfsTer28