Canonical Allele Identifier: CA880699624
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1414895288
gnomAD v3: 19-2274950-AAAAG-A
gnomAD v4: 19-2274950-AAAAG-A
MyVariant Identifiers: chr19:g.2274950_2274953del (hg19) chr19:g.2274951_2274954del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274954_2274957del , CM000681.2:g.2274954_2274957del GRCh38
NC_000019.9:g.2274953_2274956del , CM000681.1:g.2274953_2274956del GRCh37
NC_000019.8:g.2225953_2225956del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*726_*729del MANE Select ENSP00000345102.3:n.*726_*729del
ENST00000342063.4:c.*726_*729del ENSP00000345102.3:n.*726_*729del
ENST00000621615.1:c.146+5210_146+5213del ENSP00000481965.1:n.146+5210_146+5213del
NM_198532.2:c.*726_*729del NP_940934.1:n.*726_*729del
NM_198532.3:c.*726_*729del MANE Select NP_940934.1:n.*726_*729del
Search 100 bp 5'
Search 100 bp 3'