Canonical Allele Identifier: CA2269090855

Gene: NACA2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590509_61590525delinsCCAAAAAAAGTTGCTTT , CM000679.2:g.61590509_61590525delinsCCAAAAAAAGTTGCTTT	GRCh38
NC_000017.10:g.59667870_59667886delinsCCAAAAAAAGTTGCTTT , CM000679.1:g.59667870_59667886delinsCCAAAAAAAGTTGCTTT	GRCh37
NC_000017.9:g.57022652_57022668delinsCCAAAAAAAGTTGCTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.*8_*24delinsAAAGCAACTTTTTTTGG MANE Select	ENSP00000427802.1:n.*8_*24delinsAAAGCAACTTTTTTTGG
ENST00000521764.2:c.*8_*24delinsAAAGCAACTTTTTTTGG	ENSP00000427802.1:n.*8_*24delinsAAAGCAACTTTTTTTGG
NM_199290.3:c.*8_*24delinsAAAGCAACTTTTTTTGG	NP_954984.1:n.*8_*24delinsAAAGCAACTTTTTTTGG
NM_199290.4:c.*8_*24delinsAAAGCAACTTTTTTTGG MANE Select	NP_954984.1:n.*8_*24delinsAAAGCAACTTTTTTTGG