Canonical Allele Identifier: CA2695237130
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860526_154860527del , CM000685.2:g.154860526_154860527del GRCh38
NC_000023.10:g.154088801_154088802del , CM000685.1:g.154088801_154088802del GRCh37
NC_000023.9:g.153741995_153741996del NCBI36
NG_011403.1:g.167200_167201del
NG_011403.2:g.167200_167201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6808_6809del MANE Select ENSP00000353393.4:p.Leu2270AlafsTer?
ENST00000644698.1:c.541_542del ENSP00000495706.1:p.Leu181AlafsTer?
ENST00000330287.10:c.403_404del ENSP00000327895.6:p.Leu135AlafsTer?
ENST00000360256.8:c.6808_6809del ENSP00000353393.4:p.Leu2270AlafsTer?
NM_000132.3:c.6808_6809del NP_000123.1:p.Leu2270AlafsTer?
NM_019863.2:c.403_404del NP_063916.1:p.Leu135AlafsTer?
XM_011531126.1:c.6703_6704del XP_011529428.1:p.Leu2235AlafsTer?
NM_000132.4:c.6808_6809del MANE Select NP_000123.1:p.Leu2270AlafsTer?
NM_019863.3:c.403_404del NP_063916.1:p.Leu135AlafsTer?