Canonical Allele Identifier: CA2318218415

Gene: PEAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274929_2274932delinsCTCA , CM000681.2:g.2274929_2274932delinsCTCA	GRCh38
NC_000019.9:g.2274928_2274931delinsCTCA , CM000681.1:g.2274928_2274931delinsCTCA	GRCh37
NC_000019.8:g.2225928_2225931delinsCTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*748_*751delinsTGAG MANE Select	ENSP00000345102.3:n.*748_*751delinsTGAG
ENST00000342063.4:c.*748_*751delinsTGAG	ENSP00000345102.3:n.*748_*751delinsTGAG
ENST00000621615.1:c.146+5185_146+5188delinsCTCA	ENSP00000481965.1:n.146+5185_146+5188delinsCTCA
NM_198532.2:c.*748_*751delinsTGAG	NP_940934.1:n.*748_*751delinsTGAG
NM_198532.3:c.*748_*751delinsTGAG MANE Select	NP_940934.1:n.*748_*751delinsTGAG