Canonical Allele Identifier: CA2639152786
Gene: NACA2 HGNC NCBI

Linked Data

gnomAD v4: 17-61590750-CTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590751_61590752del , CM000679.2:g.61590751_61590752del GRCh38
NC_000017.10:g.59668112_59668113del , CM000679.1:g.59668112_59668113del GRCh37
NC_000017.9:g.57022894_57022895del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.429_430del MANE Select ENSP00000427802.1:p.Phe143LeufsTer5
ENST00000521764.2:c.429_430del ENSP00000427802.1:p.Phe143LeufsTer5
NM_199290.3:c.429_430del NP_954984.1:p.Phe143LeufsTer5
NM_199290.4:c.429_430del MANE Select NP_954984.1:p.Phe143LeufsTer5
Search 100 bp 5'
Search 100 bp 3'