Canonical Allele Identifier: CA645244609
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1178814506
gnomAD v2: X-154194177-AT-A
gnomAD v3: X-154965902-AT-A
gnomAD v4: X-154965902-AT-A
MyVariant Identifiers: chrX:g.154194178del (hg19) chrX:g.154965903del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154965906del , CM000685.2:g.154965906del GRCh38
NC_000023.10:g.154194181del , CM000685.1:g.154194181del GRCh37
NC_000023.9:g.153847375del NCBI36
NG_011403.1:g.61821del
NG_011403.2:g.61821del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1443+67del MANE Select ENSP00000353393.4:n.1443+67del
ENST00000647125.1:c.*1319+67del ENSP00000496062.1:n.*1319+67del
ENST00000360256.8:c.1443+67del ENSP00000353393.4:n.1443+67del
ENST00000483822.2:n.330del
NM_000132.3:c.1443+67del NP_000123.1:n.1443+67del
XM_011531126.1:c.1338+67del XP_011529428.1:n.1338+67del
NM_000132.4:c.1443+67del MANE Select NP_000123.1:n.1443+67del
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