Canonical Allele Identifier: CA572822198
Gene: FSCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1301872290
gnomAD v2: 7-5642762-GA-G
gnomAD v3: 7-5603131-GA-G
gnomAD v4: 7-5603131-GA-G
MyVariant Identifiers: chr7:g.5642763del (hg19) chr7:g.5603132del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5603132del , CM000669.2:g.5603132del GRCh38
NC_000007.13:g.5642763del , CM000669.1:g.5642763del GRCh37
NC_000007.12:g.5609289del NCBI36
NG_030004.1:g.15328del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382361.8:c.833-125del MANE Select ENSP00000371798.3:n.833-125del
ENST00000382361.7:c.833-125del ENSP00000371798.3:n.833-125del
ENST00000405801.2:c.-2-125del ENSP00000383982.2:n.-2-125del
ENST00000444748.5:c.-2-125del ENSP00000404506.1:n.-2-125del
ENST00000447103.5:c.-2-125del ENSP00000409967.1:n.-2-125del
ENST00000473330.1:n.261del
NM_003088.3:c.833-125del NP_003079.1:n.833-125del
NM_003088.4:c.833-125del MANE Select NP_003079.1:n.833-125del
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