Canonical Allele Identifier: CA880699641
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1207759512
gnomAD v3: 19-2274960-GAA-G
gnomAD v4: 19-2274960-GAA-G
MyVariant Identifiers: chr19:g.2274960_2274961del (hg19) chr19:g.2274961_2274962del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274962_2274963del , CM000681.2:g.2274962_2274963del GRCh38
NC_000019.9:g.2274961_2274962del , CM000681.1:g.2274961_2274962del GRCh37
NC_000019.8:g.2225961_2225962del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*718_*719del MANE Select ENSP00000345102.3:n.*718_*719del
ENST00000342063.4:c.*718_*719del ENSP00000345102.3:n.*718_*719del
ENST00000621615.1:c.146+5218_146+5219del ENSP00000481965.1:n.146+5218_146+5219del
NM_198532.2:c.*718_*719del NP_940934.1:n.*718_*719del
NM_198532.3:c.*718_*719del MANE Select NP_940934.1:n.*718_*719del
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