Canonical Allele Identifier: CA6462516
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs748378581
ExAC: 12:14660022 T / TG
gnomAD v2: 12-14660022-T-TG
gnomAD v3: 12-14507088-T-TG
gnomAD v4: 12-14507088-T-TG
MyVariant Identifiers: chr12:g.14660022_14660023insG (hg19) chr12:g.14507088_14507089insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507090dup , CM000674.2:g.14507090dup GRCh38
NC_000012.11:g.14660024dup , CM000674.1:g.14660024dup GRCh37
NC_000012.10:g.14551291dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1216dup MANE Select ENSP00000240617.5:p.His406ProfsTer2
ENST00000240617.9:c.1216dup ENSP00000240617.5:p.His406ProfsTer2
NM_024829.5:c.1216dup NP_079105.4:p.His406ProfsTer2
NM_024829.6:c.1216dup MANE Select NP_079105.4:p.His406ProfsTer2
Search 100 bp 5'
Search 100 bp 3'