Canonical Allele Identifier: CA992609049

Gene: PEAK3

Linked Data

• dbSNP Id: rs59367985
• gnomAD v3: 19-2274931-C-CAAAAAAAAAAAA
• gnomAD v4: 19-2274931-C-CAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274942_2274953dup , CM000681.2:g.2274942_2274953dup	GRCh38
NC_000019.9:g.2274941_2274952dup , CM000681.1:g.2274941_2274952dup	GRCh37
NC_000019.8:g.2225941_2225952dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*737_*748dup MANE Select	ENSP00000345102.3:n.*737_*748dup
ENST00000342063.4:c.*737_*748dup	ENSP00000345102.3:n.*737_*748dup
ENST00000621615.1:c.146+5198_146+5209dup	ENSP00000481965.1:n.146+5198_146+5209dup
NM_198532.2:c.*737_*748dup	NP_940934.1:n.*737_*748dup
NM_198532.3:c.*737_*748dup MANE Select	NP_940934.1:n.*737_*748dup