Canonical Allele Identifier: CA1234412
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2776180
ClinVar RCV Id: RCV003761690
dbSNP Id: rs752714857
ExAC: 1:169521985 TA / T
gnomAD v2: 1-169521985-TA-T
gnomAD v3: 1-169552747-TA-T
gnomAD v4: 1-169552747-TA-T
MyVariant Identifiers: chr1:g.169521986del (hg19) chr1:g.169552748del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169552756del , CM000663.2:g.169552756del GRCh38
NC_000001.10:g.169521994del , CM000663.1:g.169521994del GRCh37
NC_000001.9:g.167788618del NCBI36
NG_011806.1:g.38784del , LRG_553:g.38784del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1119-14del MANE Select ENSP00000356771.3:n.1119-14del
ENST00000367796.3:c.1119-14del ENSP00000356770.3:n.1119-14del
ENST00000367797.7:c.1119-14del ENSP00000356771.3:n.1119-14del
NM_000130.4:c.1119-14del , LRG_553t1:c.1119-14del NP_000121.2:n.1119-14del
XM_017000660.2:c.708-14del XP_016856149.1:n.708-14del
NM_000130.5:c.1119-14del MANE Select NP_000121.2:n.1119-14del
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