Canonical Allele Identifier: CA304236902

Gene: PEAK3

Linked Data

• dbSNP Id: rs1008249804
• gnomAD v2: 19-2274890-G-GAACC
• gnomAD v3: 19-2274891-G-GAACC
• gnomAD v4: 19-2274891-G-GAACC
• MyVariant Identifiers: chr19:g.2274890_2274891insAACC (hg19) ; chr19:g.2274891_2274892insAACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274892_2274895dup , CM000681.2:g.2274892_2274895dup	GRCh38
NC_000019.9:g.2274891_2274894dup , CM000681.1:g.2274891_2274894dup	GRCh37
NC_000019.8:g.2225891_2225894dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*785_*788dup MANE Select	ENSP00000345102.3:n.*785_*788dup
ENST00000342063.4:c.*785_*788dup	ENSP00000345102.3:n.*785_*788dup
ENST00000621615.1:c.146+5148_146+5151dup	ENSP00000481965.1:n.146+5148_146+5151dup
NM_198532.2:c.*785_*788dup	NP_940934.1:n.*785_*788dup
NM_198532.3:c.*785_*788dup MANE Select	NP_940934.1:n.*785_*788dup