Canonical Allele Identifier: CA2318218478

Gene: PEAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274960_2274962delinsGAA , CM000681.2:g.2274960_2274962delinsGAA	GRCh38
NC_000019.9:g.2274959_2274961delinsGAA , CM000681.1:g.2274959_2274961delinsGAA	GRCh37
NC_000019.8:g.2225959_2225961delinsGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*718_*720delinsTTC MANE Select	ENSP00000345102.3:n.*718_*720delinsTTC
ENST00000342063.4:c.*718_*720delinsTTC	ENSP00000345102.3:n.*718_*720delinsTTC
ENST00000621615.1:c.146+5216_146+5218delinsGAA	ENSP00000481965.1:n.146+5216_146+5218delinsGAA
NM_198532.2:c.*718_*720delinsTTC	NP_940934.1:n.*718_*720delinsTTC
NM_198532.3:c.*718_*720delinsTTC MANE Select	NP_940934.1:n.*718_*720delinsTTC