Canonical Allele Identifier: CA880699595
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1333050686
gnomAD v3: 19-2274939-AAAAAAAAAAAAAAAG-A
gnomAD v4: 19-2274939-AAAAAAAAAAAAAAAG-A
MyVariant Identifiers: chr19:g.2274939_2274953del (hg19) chr19:g.2274940_2274954del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274945_2274959del , CM000681.2:g.2274945_2274959del GRCh38
NC_000019.9:g.2274944_2274958del , CM000681.1:g.2274944_2274958del GRCh37
NC_000019.8:g.2225944_2225958del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*726_*740del MANE Select ENSP00000345102.3:n.*726_*740del
ENST00000342063.4:c.*726_*740del ENSP00000345102.3:n.*726_*740del
ENST00000621615.1:c.146+5201_146+5215del ENSP00000481965.1:n.146+5201_146+5215del
NM_198532.2:c.*726_*740del NP_940934.1:n.*726_*740del
NM_198532.3:c.*726_*740del MANE Select NP_940934.1:n.*726_*740del
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