Canonical Allele Identifier: CA2695237285
Gene: F8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154965971_154965972insT , CM000685.2:g.154965971_154965972insT GRCh38
NC_000023.10:g.154194246_154194247insT , CM000685.1:g.154194246_154194247insT GRCh37
NC_000023.9:g.153847440_153847441insT NCBI36
NG_011403.1:g.61752_61753insA
NG_011403.2:g.61752_61753insA

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1441_1442insA MANE Select ENSP00000353393.4:p.Leu481TyrfsTer5
ENST00000647125.1:c.*1317_*1318insA ENSP00000496062.1:n.*1317_*1318insA
ENST00000360256.8:c.1441_1442insA ENSP00000353393.4:p.Leu481TyrfsTer5
ENST00000483822.2:n.261_262insA
NM_000132.3:c.1441_1442insA NP_000123.1:p.Leu481TyrfsTer5
XM_011531126.1:c.1336_1337insA XP_011529428.1:p.Leu446TyrfsTer5
NM_000132.4:c.1441_1442insA MANE Select NP_000123.1:p.Leu481TyrfsTer5
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