Canonical Allele Identifier: CA2575214192
Gene: GNS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64728998del , CM000674.2:g.64728998del GRCh38
NC_000012.11:g.65122778del , CM000674.1:g.65122778del GRCh37
NC_000012.10:g.63409045del NCBI36
NG_008955.1:g.35451del

Transcript Alleles

HGVS Amino-acid change
ENST00000258145.8:c.1160del MANE Select ENSP00000258145.3:p.Asn387IlefsTer14
ENST00000258145.7:c.1160del ENSP00000258145.3:p.Asn387IlefsTer14
ENST00000418919.6:c.992del ENSP00000413130.2:p.Asn331IlefsTer14
ENST00000537823.1:n.159del
ENST00000540196.5:c.557-5883del
ENST00000540883.1:n.223del
ENST00000541781.5:n.1215del
ENST00000542058.5:c.1100del ENSP00000444819.1:p.Asn367IlefsTer14
ENST00000543646.5:c.1256del ENSP00000438497.1:p.Asn419IlefsTer14
NM_002076.3:c.1160del NP_002067.1:p.Asn387IlefsTer14
NM_002076.4:c.1160del MANE Select NP_002067.1:p.Asn387IlefsTer14
Search 100 bp 5'
Search 100 bp 3'