Canonical Allele Identifier: CA501351544
Gene: NACA2 HGNC NCBI

Linked Data

COSMIC: COSM391825
MyVariant Identifiers: chr17:g.59668169del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590811del , CM000679.2:g.61590811del GRCh38
NC_000017.10:g.59668172del , CM000679.1:g.59668172del GRCh37
NC_000017.9:g.57022954del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.373del MANE Select ENSP00000427802.1:p.Glu125LysfsTer13
ENST00000521764.2:c.373del ENSP00000427802.1:p.Glu125LysfsTer13
NM_199290.3:c.373del NP_954984.1:p.Glu125LysfsTer13
NM_199290.4:c.373del MANE Select NP_954984.1:p.Glu125LysfsTer13