Canonical Allele Identifier: CA2695237103
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837640del , CM000685.2:g.154837640del GRCh38
NC_000023.10:g.154065915del , CM000685.1:g.154065915del GRCh37
NC_000023.9:g.153719109del NCBI36
NG_011403.1:g.190084del
NG_033065.1:g.2023del
NG_011403.2:g.190084del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.7013del MANE Select ENSP00000353393.4:p.Leu2338ArgfsTer?
ENST00000644698.1:c.746del ENSP00000495706.1:p.Leu249ArgfsTer?
ENST00000330287.10:c.608del ENSP00000327895.6:p.Leu203ArgfsTer?
ENST00000360256.8:c.7013del ENSP00000353393.4:p.Leu2338ArgfsTer?
NM_000132.3:c.7013del NP_000123.1:p.Leu2338ArgfsTer?
NM_019863.2:c.608del NP_063916.1:p.Leu203ArgfsTer?
XM_011531126.1:c.6908del XP_011529428.1:p.Leu2303ArgfsTer?
NM_000132.4:c.7013del MANE Select NP_000123.1:p.Leu2338ArgfsTer?
NM_019863.3:c.608del NP_063916.1:p.Leu203ArgfsTer?