Canonical Allele Identifier: CA2583859232
Gene: PEAK3 HGNC NCBI

Linked Data

gnomAD v4: 19-2275082-GGGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2275085_2275087del , CM000681.2:g.2275085_2275087del GRCh38
NC_000019.9:g.2275084_2275086del , CM000681.1:g.2275084_2275086del GRCh37
NC_000019.8:g.2226084_2226086del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000342063.5:c.*595_*597del MANE Select ENSP00000345102.3:n.*595_*597del
ENST00000342063.4:c.*595_*597del ENSP00000345102.3:n.*595_*597del
ENST00000621615.1:c.146+5341_146+5343del ENSP00000481965.1:n.146+5341_146+5343del
NM_198532.2:c.*595_*597del NP_940934.1:n.*595_*597del
NM_198532.3:c.*595_*597del MANE Select NP_940934.1:n.*595_*597del
Search 100 bp 5'
Search 100 bp 3'