Canonical Allele Identifier: CA890926358
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1213897796
gnomAD v3: 1-169549632-G-GA
gnomAD v4: 1-169549632-G-GA
MyVariant Identifiers: chr1:g.169518870_169518871insA (hg19) chr1:g.169549632_169549633insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169549633dup , CM000663.2:g.169549633dup GRCh38
NC_000001.10:g.169518871dup , CM000663.1:g.169518871dup GRCh37
NC_000001.9:g.167785495dup NCBI36
NG_011806.1:g.41899dup , LRG_553:g.41899dup

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.1611+168dup MANE Select ENSP00000356771.3:n.1611+168dup
ENST00000367796.3:c.1611+168dup ENSP00000356770.3:n.1611+168dup
ENST00000367797.7:c.1611+168dup ENSP00000356771.3:n.1611+168dup
NM_000130.4:c.1611+168dup , LRG_553t1:c.1611+168dup NP_000121.2:n.1611+168dup
XM_017000660.2:c.1200+168dup XP_016856149.1:n.1200+168dup
NM_000130.5:c.1611+168dup MANE Select NP_000121.2:n.1611+168dup
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