Canonical Allele Identifier: CA2318218470

Gene: PEAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274956_2274960delinsAAAAG , CM000681.2:g.2274956_2274960delinsAAAAG	GRCh38
NC_000019.9:g.2274955_2274959delinsAAAAG , CM000681.1:g.2274955_2274959delinsAAAAG	GRCh37
NC_000019.8:g.2225955_2225959delinsAAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*720_*724delinsCTTTT MANE Select	ENSP00000345102.3:n.*720_*724delinsCTTTT
ENST00000342063.4:c.*720_*724delinsCTTTT	ENSP00000345102.3:n.*720_*724delinsCTTTT
ENST00000621615.1:c.146+5212_146+5216delinsAAAAG	ENSP00000481965.1:n.146+5212_146+5216delinsAAAAG
NM_198532.2:c.*720_*724delinsCTTTT	NP_940934.1:n.*720_*724delinsCTTTT
NM_198532.3:c.*720_*724delinsCTTTT MANE Select	NP_940934.1:n.*720_*724delinsCTTTT