Canonical Allele Identifier: CA10643041
Gene: FGF9 HGNC NCBI

Linked Data

ClinVar Variation Id: 311433
ClinVar RCV Id: RCV000388210
dbSNP Id: rs201279299
gnomAD v2: 13-22275844-GTGTA-G
gnomAD v3: 13-21701705-GTGTA-G
gnomAD v4: 13-21701705-GTGTA-G
MyVariant Identifiers: chr13:g.22275848_22275851del (hg19) chr13:g.22275845_22275848del (hg19) chr13:g.21701709_21701712del (hg38) chr13:g.21701706_21701709del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.21701709_21701712del , CM000675.2:g.21701709_21701712del GRCh38
NC_000013.10:g.22275848_22275851del , CM000675.1:g.22275848_22275851del GRCh37
NC_000013.9:g.21173848_21173851del NCBI36
NG_016272.1:g.35634_35637del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382353.6:c.*274_*277del MANE Select ENSP00000371790.5:n.*274_*277del
ENST00000382353.5:c.*274_*277del ENSP00000371790.5:n.*274_*277del
ENST00000478546.1:n.661_664del
NM_002010.2:c.*274_*277del NP_002001.1:n.*274_*277del
XM_011534996.1:c.*274_*277del XP_011533298.1:n.*274_*277del
XM_011534996.2:c.*274_*277del XP_011533298.1:n.*274_*277del
NM_002010.3:c.*274_*277del MANE Select NP_002001.1:n.*274_*277del
Search 100 bp 5'
Search 100 bp 3'