Canonical Allele Identifier: CA2318218281

Gene: PEAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274760_2274763delinsCAGG , CM000681.2:g.2274760_2274763delinsCAGG	GRCh38
NC_000019.9:g.2274759_2274762delinsCAGG , CM000681.1:g.2274759_2274762delinsCAGG	GRCh37
NC_000019.8:g.2225759_2225762delinsCAGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*917_*920delinsCCTG MANE Select	ENSP00000345102.3:n.*917_*920delinsCCTG
ENST00000342063.4:c.*917_*920delinsCCTG	ENSP00000345102.3:n.*917_*920delinsCCTG
ENST00000621615.1:c.146+5016_146+5019delinsCAGG	ENSP00000481965.1:n.146+5016_146+5019delinsCAGG
NM_198532.2:c.*917_*920delinsCCTG	NP_940934.1:n.*917_*920delinsCCTG
NM_198532.3:c.*917_*920delinsCCTG MANE Select	NP_940934.1:n.*917_*920delinsCCTG