Canonical Allele Identifier: CA1138608031
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs2073619682
gnomAD v3: X-154996827-GAT-G
gnomAD v4: X-154996827-GAT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154996830_154996831del , CM000685.2:g.154996830_154996831del GRCh38
NC_000023.10:g.154225105_154225106del , CM000685.1:g.154225105_154225106del GRCh37
NC_000023.9:g.153878299_153878300del NCBI36
NG_011403.1:g.30895_30896del
NG_011403.2:g.30895_30896del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.388+144_388+145del MANE Select ENSP00000353393.4:n.388+144_388+145del
ENST00000647125.1:c.*174+144_*174+145del ENSP00000496062.1:n.*174+144_*174+145del
ENST00000360256.8:c.388+144_388+145del ENSP00000353393.4:n.388+144_388+145del
ENST00000423959.5:c.283+144_283+145del ENSP00000409446.1:n.283+144_283+145del
ENST00000453950.1:c.370+144_370+145del ENSP00000389153.1:n.370+144_370+145del
NM_000132.3:c.388+144_388+145del NP_000123.1:n.388+144_388+145del
XM_011531126.1:c.283+144_283+145del XP_011529428.1:n.283+144_283+145del
NM_000132.4:c.388+144_388+145del MANE Select NP_000123.1:n.388+144_388+145del
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