Canonical Allele Identifier: CA890929686
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1375164616
gnomAD v3: 1-169554992-AT-A
gnomAD v4: 1-169554992-AT-A
MyVariant Identifiers: chr1:g.169524231del (hg19) chr1:g.169554993del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169554994del , CM000663.2:g.169554994del GRCh38
NC_000001.10:g.169524232del , CM000663.1:g.169524232del GRCh37
NC_000001.9:g.167790856del NCBI36
NG_011806.1:g.36539del , LRG_553:g.36539del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1118+189del MANE Select ENSP00000356771.3:n.1118+189del
ENST00000367796.3:c.1118+189del ENSP00000356770.3:n.1118+189del
ENST00000367797.7:c.1118+189del ENSP00000356771.3:n.1118+189del
NM_000130.4:c.1118+189del , LRG_553t1:c.1118+189del NP_000121.2:n.1118+189del
XM_017000660.2:c.707+189del XP_016856149.1:n.707+189del
NM_000130.5:c.1118+189del MANE Select NP_000121.2:n.1118+189del
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