Canonical Allele Identifier: CA10567990

Gene: F8

Linked Data

• dbSNP Id: rs782086610
• ExAC: X:154133316 CAAA / C
• gnomAD v2: X-154133316-CAAA-C
• gnomAD v3: X-154905041-CAAA-C
• gnomAD v4: X-154905041-CAAA-C
• MyVariant Identifiers: chrX:g.154133317_154133319del (hg19) ; chrX:g.154905042_154905044del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154905051_154905053del , CM000685.2:g.154905051_154905053del	GRCh38
NC_000023.10:g.154133326_154133328del , CM000685.1:g.154133326_154133328del	GRCh37
NC_000023.9:g.153786520_153786522del	NCBI36
NG_011403.1:g.122680_122682del
NG_011403.2:g.122680_122682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5374-21_5374-19del MANE Select	ENSP00000353393.4:n.5374-21_5374-19del
ENST00000360256.8:c.5374-21_5374-19del	ENSP00000353393.4:n.5374-21_5374-19del
NM_000132.3:c.5374-21_5374-19del	NP_000123.1:n.5374-21_5374-19del
XM_011531126.1:c.5269-21_5269-19del	XP_011529428.1:n.5269-21_5269-19del
NM_000132.4:c.5374-21_5374-19del MANE Select	NP_000123.1:n.5374-21_5374-19del