Canonical Allele Identifier: CA992609061

Gene: PEAK3

Linked Data

• gnomAD v3: 19-2274948-A-AAAAAAAG
• gnomAD v4: 19-2274948-A-AAAAAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2274953_2274954insAGAAAAA , CM000681.2:g.2274953_2274954insAGAAAAA	GRCh38
NC_000019.9:g.2274952_2274953insAGAAAAA , CM000681.1:g.2274952_2274953insAGAAAAA	GRCh37
NC_000019.8:g.2225952_2225953insAGAAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342063.5:c.*731_*732insCTTTTTT MANE Select	ENSP00000345102.3:n.*731_*732insCTTTTTT
ENST00000342063.4:c.*731_*732insCTTTTTT	ENSP00000345102.3:n.*731_*732insCTTTTTT
ENST00000621615.1:c.146+5209_146+5210insAGAAAAA	ENSP00000481965.1:n.146+5209_146+5210insAGAAAAA
NM_198532.2:c.*731_*732insCTTTTTT	NP_940934.1:n.*731_*732insCTTTTTT
NM_198532.3:c.*731_*732insCTTTTTT MANE Select	NP_940934.1:n.*731_*732insCTTTTTT