Canonical Allele Identifier: CA526710641
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1244168735
gnomAD v2: 1-169499891-AACC-A
gnomAD v3: 1-169530653-AACC-A
gnomAD v4: 1-169530653-AACC-A
MyVariant Identifiers: chr1:g.169499892_169499894del (hg19) chr1:g.169530654_169530656del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169530656_169530658del , CM000663.2:g.169530656_169530658del GRCh38
NC_000001.10:g.169499894_169499896del , CM000663.1:g.169499894_169499896del GRCh37
NC_000001.9:g.167766518_167766520del NCBI36
NG_011806.1:g.60876_60878del , LRG_553:g.60876_60878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.5208+130_5208+132del MANE Select ENSP00000356771.3:n.5208+130_5208+132del
ENST00000367796.3:c.5223+130_5223+132del ENSP00000356770.3:n.5223+130_5223+132del
ENST00000367797.7:c.5208+130_5208+132del ENSP00000356771.3:n.5208+130_5208+132del
NM_000130.4:c.5208+130_5208+132del , LRG_553t1:c.5208+130_5208+132del NP_000121.2:n.5208+130_5208+132del
XM_017000660.2:c.4797+130_4797+132del XP_016856149.1:n.4797+130_4797+132del
NM_000130.5:c.5208+130_5208+132del MANE Select NP_000121.2:n.5208+130_5208+132del
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