Canonical Allele Identifier: CA2619652359
Gene: GNS HGNC NCBI

Linked Data

gnomAD v4: 12-64729007-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64729009del , CM000674.2:g.64729009del GRCh38
NC_000012.11:g.65122789del , CM000674.1:g.65122789del GRCh37
NC_000012.10:g.63409056del NCBI36
NG_008955.1:g.35439del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258145.8:c.1148del MANE Select ENSP00000258145.3:p.Gly383AlafsTer4
ENST00000258145.7:c.1148del ENSP00000258145.3:p.Gly383AlafsTer4
ENST00000418919.6:c.980del ENSP00000413130.2:p.Gly327AlafsTer4
ENST00000537823.1:n.147del
ENST00000540196.5:c.557-5895del
ENST00000540883.1:n.211del
ENST00000541781.5:n.1203del
ENST00000542058.5:c.1088del ENSP00000444819.1:p.Gly363AlafsTer4
ENST00000543646.5:c.1244del ENSP00000438497.1:p.Gly415AlafsTer4
NM_002076.3:c.1148del NP_002067.1:p.Gly383AlafsTer4
NM_002076.4:c.1148del MANE Select NP_002067.1:p.Gly383AlafsTer4
Search 100 bp 5'
Search 100 bp 3'