Canonical Allele Identifier: CA1139667895
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 993637
ClinVar RCV Id: RCV001285320 RCV003399053 RCV003987825
dbSNP Id: rs2072706332
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154863134_154863136del , CM000685.2:g.154863134_154863136del GRCh38
NC_000023.10:g.154091409_154091411del , CM000685.1:g.154091409_154091411del GRCh37
NC_000023.9:g.153744603_153744605del NCBI36
NG_011403.1:g.164590_164592del
NG_011403.2:g.164590_164592del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6523_6525del MANE Select ENSP00000353393.4:p.Tyr2175del
ENST00000644698.1:c.256_258del ENSP00000495706.1:p.Tyr86del
ENST00000330287.10:c.118_120del ENSP00000327895.6:p.Tyr40del
ENST00000360256.8:c.6523_6525del ENSP00000353393.4:p.Tyr2175del
NM_000132.3:c.6523_6525del NP_000123.1:p.Tyr2175del
NM_019863.2:c.118_120del NP_063916.1:p.Tyr40del
XM_011531126.1:c.6418_6420del XP_011529428.1:p.Tyr2140del
NM_000132.4:c.6523_6525del MANE Select NP_000123.1:p.Tyr2175del
NM_019863.3:c.118_120del NP_063916.1:p.Tyr40del
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