Canonical Allele Identifier: CA992609082

Gene: PEAK3

Linked Data

• gnomAD v3: 19-2274981-T-TAGCAGA
• gnomAD v4: 19-2274981-T-TAGCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274981_2274982insAGCAGA , CM000681.2:g.2274981_2274982insAGCAGA	GRCh38
NC_000019.9:g.2274980_2274981insAGCAGA , CM000681.1:g.2274980_2274981insAGCAGA	GRCh37
NC_000019.8:g.2225980_2225981insAGCAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*698_*699insTCTGCT MANE Select	ENSP00000345102.3:n.*698_*699insTCTGCT
ENST00000342063.4:c.*698_*699insTCTGCT	ENSP00000345102.3:n.*698_*699insTCTGCT
ENST00000621615.1:c.146+5237_146+5238insAGCAGA	ENSP00000481965.1:n.146+5237_146+5238insAGCAGA
NM_198532.2:c.*698_*699insTCTGCT	NP_940934.1:n.*698_*699insTCTGCT
NM_198532.3:c.*698_*699insTCTGCT MANE Select	NP_940934.1:n.*698_*699insTCTGCT