Canonical Allele Identifier: CA2318218214

Gene: PEAK3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274666_2274670delinsATTTG , CM000681.2:g.2274666_2274670delinsATTTG	GRCh38
NC_000019.9:g.2274665_2274669delinsATTTG , CM000681.1:g.2274665_2274669delinsATTTG	GRCh37
NC_000019.8:g.2225665_2225669delinsATTTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*1010_*1014delinsCAAAT MANE Select	ENSP00000345102.3:n.*1010_*1014delinsCAAAT
ENST00000342063.4:c.*1010_*1014delinsCAAAT	ENSP00000345102.3:n.*1010_*1014delinsCAAAT
ENST00000621615.1:c.146+4922_146+4926delinsATTTG	ENSP00000481965.1:n.146+4922_146+4926delinsATTTG
NM_198532.2:c.*1010_*1014delinsCAAAT	NP_940934.1:n.*1010_*1014delinsCAAAT
NM_198532.3:c.*1010_*1014delinsCAAAT MANE Select	NP_940934.1:n.*1010_*1014delinsCAAAT