Canonical Allele Identifier: CA992608985

Gene: PEAK3

Linked Data

• dbSNP Id: rs2025367113
• gnomAD v3: 19-2274813-A-AATAT
• gnomAD v4: 19-2274813-A-AATAT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274813_2274814insATAT , CM000681.2:g.2274813_2274814insATAT	GRCh38
NC_000019.9:g.2274812_2274813insATAT , CM000681.1:g.2274812_2274813insATAT	GRCh37
NC_000019.8:g.2225812_2225813insATAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*866_*867insATAT MANE Select	ENSP00000345102.3:n.*866_*867insATAT
ENST00000342063.4:c.*866_*867insATAT	ENSP00000345102.3:n.*866_*867insATAT
ENST00000621615.1:c.146+5069_146+5070insATAT	ENSP00000481965.1:n.146+5069_146+5070insATAT
NM_198532.2:c.*866_*867insATAT	NP_940934.1:n.*866_*867insATAT
NM_198532.3:c.*866_*867insATAT MANE Select	NP_940934.1:n.*866_*867insATAT