Canonical Allele Identifier: CA526713592
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1302099435
gnomAD v2: 1-169541436-GA-G
MyVariant Identifiers: chr1:g.169541437del (hg19) chr1:g.169572199del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169572203del , CM000663.2:g.169572203del GRCh38
NC_000001.10:g.169541441del , CM000663.1:g.169541441del GRCh37
NC_000001.9:g.167808065del NCBI36
NG_011806.1:g.19333del , LRG_553:g.19333del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.373+22del MANE Select ENSP00000356771.3:n.373+22del
ENST00000367796.3:c.373+22del ENSP00000356770.3:n.373+22del
ENST00000367797.7:c.373+22del ENSP00000356771.3:n.373+22del
NM_000130.4:c.373+22del , LRG_553t1:c.373+22del NP_000121.2:n.373+22del
XM_017000660.2:c.-39+22del XP_016856149.1:n.-39+22del
NM_000130.5:c.373+22del MANE Select NP_000121.2:n.373+22del
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