Canonical Allele Identifier: CA2596454017
Gene: NACA2 HGNC NCBI

Linked Data

dbSNP Id: rs2143969122
gnomAD v3: 17-61590891-CAGAT-C
gnomAD v4: 17-61590891-CAGAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590894_61590897del , CM000679.2:g.61590894_61590897del GRCh38
NC_000017.10:g.59668255_59668258del , CM000679.1:g.59668255_59668258del GRCh37
NC_000017.9:g.57023037_57023040del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.286_289del MANE Select ENSP00000427802.1:p.Ile96GlyfsTer25
ENST00000521764.2:c.286_289del ENSP00000427802.1:p.Ile96GlyfsTer25
NM_199290.3:c.286_289del NP_954984.1:p.Ile96GlyfsTer25
NM_199290.4:c.286_289del MANE Select NP_954984.1:p.Ile96GlyfsTer25
Search 100 bp 5'
Search 100 bp 3'