Canonical Allele Identifier: CA2318218440

Gene: PEAK3

Linked Data

• dbSNP Id: rs2025369349
• gnomAD v3: 19-2274939-A-AAAG
• gnomAD v4: 19-2274939-A-AAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274941_2274942insGAA , CM000681.2:g.2274941_2274942insGAA	GRCh38
NC_000019.9:g.2274940_2274941insGAA , CM000681.1:g.2274940_2274941insGAA	GRCh37
NC_000019.8:g.2225940_2225941insGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*740_*741insCTT MANE Select	ENSP00000345102.3:n.*740_*741insCTT
ENST00000342063.4:c.*740_*741insCTT	ENSP00000345102.3:n.*740_*741insCTT
ENST00000621615.1:c.146+5197_146+5198insGAA	ENSP00000481965.1:n.146+5197_146+5198insGAA
NM_198532.2:c.*740_*741insCTT	NP_940934.1:n.*740_*741insCTT
NM_198532.3:c.*740_*741insCTT MANE Select	NP_940934.1:n.*740_*741insCTT