Canonical Allele Identifier: CA2534920667
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154956894_154956896del , CM000685.2:g.154956894_154956896del GRCh38
NC_000023.10:g.154185169_154185171del , CM000685.1:g.154185169_154185171del GRCh37
NC_000023.9:g.153838363_153838365del NCBI36
NG_011403.1:g.70831_70833del
NG_011403.2:g.70831_70833del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1752+64_1752+66del MANE Select ENSP00000353393.4:n.1752+64_1752+66del
ENST00000647125.1:c.*1628+64_*1628+66del ENSP00000496062.1:n.*1628+64_*1628+66del
ENST00000360256.8:c.1752+64_1752+66del ENSP00000353393.4:n.1752+64_1752+66del
NM_000132.3:c.1752+64_1752+66del NP_000123.1:n.1752+64_1752+66del
XM_011531126.1:c.1647+64_1647+66del XP_011529428.1:n.1647+64_1647+66del
NM_000132.4:c.1752+64_1752+66del MANE Select NP_000123.1:n.1752+64_1752+66del