Canonical Allele Identifier: CA2558519234
Gene: NACA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61590582_61590584del , CM000679.2:g.61590582_61590584del GRCh38
NC_000017.10:g.59667943_59667945del , CM000679.1:g.59667943_59667945del GRCh37
NC_000017.9:g.57022725_57022727del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521764.3:c.600_602del MANE Select ENSP00000427802.1:p.Lys200del
ENST00000521764.2:c.600_602del ENSP00000427802.1:p.Lys200del
NM_199290.3:c.600_602del NP_954984.1:p.Lys200del
NM_199290.4:c.600_602del MANE Select NP_954984.1:p.Lys200del