Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

ALLELE REGISTRY - SERVICE INTERRUPTION2024-08-10T11:00:00-0500 — 2024-08-10T15:00:00-0500
The ClinGen Allele Registry will have an off-hours outage to perform maintenance tasks.
The outage will not take the entire interruption period.

ClinGen Allele Registry

Canonical Allele Identifier: CA658799940

Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 503494

ClinVar RCV Id: RCV000591635 RCV002248811

dbSNP Id: rs781928603

gnomAD v3: X-154947224-GAAAAAAAAAAAAA-G

gnomAD v4: X-154947224-GAAAAAAAAAAAAA-G

MyVariant Identifiers: chrX:g.154947225_154947237del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154947237_154947249del , CM000685.2:g.154947237_154947249del	GRCh38
NC_000023.10:g.154175512_154175524del , CM000685.1:g.154175512_154175524del	GRCh37
NC_000023.9:g.153828706_153828718del	NCBI36
NG_011403.1:g.80487_80499del
NG_011403.2:g.80487_80499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.2113+461_2113+473del MANE Select	ENSP00000353393.4:n.2113+461_2113+473del
ENST00000647125.1:c.1779+6655_1779+6667del	ENSP00000496062.1:n.1779+6655_1779+6667del
ENST00000360256.8:c.2113+461_2113+473del	ENSP00000353393.4:n.2113+461_2113+473del
NM_000132.3:c.2113+461_2113+473del	NP_000123.1:n.2113+461_2113+473del
XM_011531126.1:c.2008+461_2008+473del	XP_011529428.1:n.2008+461_2008+473del
NM_000132.4:c.2113+461_2113+473del MANE Select	NP_000123.1:n.2113+461_2113+473del