Canonical Allele Identifier: CA526711246
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1267222357
gnomAD v2: 1-169518866-AC-A
gnomAD v3: 1-169549628-AC-A
gnomAD v4: 1-169549628-AC-A
MyVariant Identifiers: chr1:g.169518867del (hg19) chr1:g.169549629del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169549629del , CM000663.2:g.169549629del GRCh38
NC_000001.10:g.169518867del , CM000663.1:g.169518867del GRCh37
NC_000001.9:g.167785491del NCBI36
NG_011806.1:g.41903del , LRG_553:g.41903del

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.1611+172del MANE Select ENSP00000356771.3:n.1611+172del
ENST00000367796.3:c.1611+172del ENSP00000356770.3:n.1611+172del
ENST00000367797.7:c.1611+172del ENSP00000356771.3:n.1611+172del
NM_000130.4:c.1611+172del , LRG_553t1:c.1611+172del NP_000121.2:n.1611+172del
XM_017000660.2:c.1200+172del XP_016856149.1:n.1200+172del
NM_000130.5:c.1611+172del MANE Select NP_000121.2:n.1611+172del
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