Canonical Allele Identifier: CA555034937

Gene: NAA15

Linked Data

• ClinVar Variation Id: 446520
• ClinVar RCV Id: RCV000515798 ; RCV000793395
• dbSNP Id: rs1380822792
• gnomAD v2: 4-140258086-ATGACT-A
• gnomAD v4: 4-139336932-ATGACT-A
• COSMIC: COSM1051371
• MyVariant Identifiers: chr4:g.140258087_140258091del (hg19) ; chr4:g.139336933_139336937del (hg38)
• PubMed: PMID:28191889

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.139336936_139336940del , CM000666.2:g.139336936_139336940del	GRCh38
NC_000004.11:g.140258090_140258094del , CM000666.1:g.140258090_140258094del	GRCh37
NC_000004.10:g.140477540_140477544del	NCBI36
NG_053037.1:g.40470_40474del

Transcript Alleles

HGVS	Amino-acid change
ENST00000468029.2:c.228_232del	ENSP00000514912.1:p.Asp76GlufsTer20
ENST00000700275.1:c.228_232del	ENSP00000514910.1:p.Asp76GlufsTer20
ENST00000700276.1:c.139+2678_139+2682del	ENSP00000514911.1:n.139+2678_139+2682del
ENST00000700277.1:c.228_232del	ENSP00000514913.1:p.Asp76GlufsTer10
ENST00000700278.1:n.405_409del
ENST00000700279.1:n.486_490del
ENST00000296543.10:c.228_232del MANE Select	ENSP00000296543.4:p.Asp76GlufsTer20
ENST00000296543.9:c.228_232del	ENSP00000296543.4:p.Asp76GlufsTer20
ENST00000398947.1:c.228_232del	ENSP00000381920.1:p.Asp76GlufsTer20
ENST00000480277.2:n.64_68del
ENST00000482087.1:n.372_376del
NM_057175.3:c.228_232del	NP_476516.1:p.Asp76GlufsTer20
XM_005263236.1:c.228_232del	XP_005263293.1:p.Asp76GlufsTer20
NM_057175.4:c.228_232del	NP_476516.1:p.Asp76GlufsTer20
XM_005263236.3:c.228_232del	XP_005263293.1:p.Asp76GlufsTer20
NM_057175.5:c.228_232del MANE Select	NP_476516.1:p.Asp76GlufsTer20