Canonical Allele Identifier: CA992609069

Gene: PEAK3

Linked Data

• dbSNP Id: rs1207759512
• gnomAD v3: 19-2274960-G-GAA
• gnomAD v4: 19-2274960-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274962_2274963dup , CM000681.2:g.2274962_2274963dup	GRCh38
NC_000019.9:g.2274961_2274962dup , CM000681.1:g.2274961_2274962dup	GRCh37
NC_000019.8:g.2225961_2225962dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*718_*719dup MANE Select	ENSP00000345102.3:n.*718_*719dup
ENST00000342063.4:c.*718_*719dup	ENSP00000345102.3:n.*718_*719dup
ENST00000621615.1:c.146+5218_146+5219dup	ENSP00000481965.1:n.146+5218_146+5219dup
NM_198532.2:c.*718_*719dup	NP_940934.1:n.*718_*719dup
NM_198532.3:c.*718_*719dup MANE Select	NP_940934.1:n.*718_*719dup