Canonical Allele Identifier: CA1234443
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs779283807
ExAC: 1:169524459 AT / A
gnomAD v2: 1-169524459-AT-A
gnomAD v3: 1-169555221-AT-A
gnomAD v4: 1-169555221-AT-A
MyVariant Identifiers: chr1:g.169524460del (hg19) chr1:g.169555222del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555222del , CM000663.2:g.169555222del GRCh38
NC_000001.10:g.169524460del , CM000663.1:g.169524460del GRCh37
NC_000001.9:g.167791084del NCBI36
NG_011806.1:g.36310del , LRG_553:g.36310del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1078del MANE Select ENSP00000356771.3:p.Ile360PhefsTer7
ENST00000367796.3:c.1078del ENSP00000356770.3:p.Ile360PhefsTer7
ENST00000367797.7:c.1078del ENSP00000356771.3:p.Ile360PhefsTer7
NM_000130.4:c.1078del , LRG_553t1:c.1078del NP_000121.2:p.Ile360PhefsTer7
XM_017000660.2:c.667del XP_016856149.1:p.Ile223PhefsTer7
NM_000130.5:c.1078del MANE Select NP_000121.2:p.Ile360PhefsTer7
Search 100 bp 5'
Search 100 bp 3'