Canonical Allele Identifier: CA2318218232

Gene: PEAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274687_2274689delinsCTG , CM000681.2:g.2274687_2274689delinsCTG	GRCh38
NC_000019.9:g.2274686_2274688delinsCTG , CM000681.1:g.2274686_2274688delinsCTG	GRCh37
NC_000019.8:g.2225686_2225688delinsCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*991_*993delinsCAG MANE Select	ENSP00000345102.3:n.*991_*993delinsCAG
ENST00000342063.4:c.*991_*993delinsCAG	ENSP00000345102.3:n.*991_*993delinsCAG
ENST00000621615.1:c.146+4943_146+4945delinsCTG	ENSP00000481965.1:n.146+4943_146+4945delinsCTG
NM_198532.2:c.*991_*993delinsCAG	NP_940934.1:n.*991_*993delinsCAG
NM_198532.3:c.*991_*993delinsCAG MANE Select	NP_940934.1:n.*991_*993delinsCAG