Canonical Allele Identifier: CA645253454
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1557278243
gnomAD v2: X-154156711-TTCTC-T
gnomAD v3: X-154928436-TTCTC-T
gnomAD v4: X-154928436-TTCTC-T
MyVariant Identifiers: chrX:g.154156712_154156715del (hg19) chrX:g.154928437_154928440del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928440_154928443del , CM000685.2:g.154928440_154928443del GRCh38
NC_000023.10:g.154156715_154156718del , CM000685.1:g.154156715_154156718del GRCh37
NC_000023.9:g.153809909_153809912del NCBI36
NG_011403.1:g.99284_99287del
NG_011403.2:g.99284_99287del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5219+131_5219+134del MANE Select ENSP00000353393.4:n.5219+131_5219+134del
ENST00000360256.8:c.5219+131_5219+134del ENSP00000353393.4:n.5219+131_5219+134del
NM_000132.3:c.5219+131_5219+134del NP_000123.1:n.5219+131_5219+134del
XM_011531126.1:c.5114+131_5114+134del XP_011529428.1:n.5114+131_5114+134del
NM_000132.4:c.5219+131_5219+134del MANE Select NP_000123.1:n.5219+131_5219+134del
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