Canonical Allele Identifier: CA860439168

Gene: NCS1

Linked Data

• dbSNP Id: rs1273398114
• gnomAD v3: 9-130204908-CTT-C
• gnomAD v4: 9-130204908-CTT-C
• MyVariant Identifiers: chr9:g.130204909_130204910del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130204911_130204912del , CM000671.2:g.130204911_130204912del	GRCh38
NC_000009.11:g.132967190_132967191del , CM000671.1:g.132967190_132967191del	GRCh37
NC_000009.10:g.132007011_132007012del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000372398.6:c.89+3929_89+3930del MANE Select	ENSP00000361475.3:n.89+3929_89+3930del
ENST00000372398.5:c.89+3929_89+3930del	ENSP00000361475.3:n.89+3929_89+3930del
ENST00000493042.1:n.143+3929_143+3930del
ENST00000630865.1:c.35+3929_35+3930del	ENSP00000486695.1:n.35+3929_35+3930del
NM_001128826.1:c.35+3929_35+3930del	NP_001122298.1:n.35+3929_35+3930del
NM_014286.3:c.89+3929_89+3930del	NP_055101.2:n.89+3929_89+3930del
NM_014286.4:c.89+3929_89+3930del MANE Select	NP_055101.2:n.89+3929_89+3930del
NM_001128826.2:c.35+3929_35+3930del	NP_001122298.1:n.35+3929_35+3930del