Canonical Allele Identifier: CA631095575
Gene: PEAK3 HGNC NCBI

Linked Data

dbSNP Id: rs1491469911
gnomAD v2: 19-2274951-AAG-A
gnomAD v3: 19-2274952-AAG-A
gnomAD v4: 19-2274952-AAG-A
MyVariant Identifiers: chr19:g.2274952_2274953del (hg19) chr19:g.2274953_2274954del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2274954_2274955del , CM000681.2:g.2274954_2274955del GRCh38
NC_000019.9:g.2274953_2274954del , CM000681.1:g.2274953_2274954del GRCh37
NC_000019.8:g.2225953_2225954del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342063.5:c.*726_*727del MANE Select ENSP00000345102.3:n.*726_*727del
ENST00000342063.4:c.*726_*727del ENSP00000345102.3:n.*726_*727del
ENST00000621615.1:c.146+5210_146+5211del ENSP00000481965.1:n.146+5210_146+5211del
NM_198532.2:c.*726_*727del NP_940934.1:n.*726_*727del
NM_198532.3:c.*726_*727del MANE Select NP_940934.1:n.*726_*727del
Search 100 bp 5'
Search 100 bp 3'