Canonical Allele Identifier: CA685750654
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1219976268
gnomAD v4: 12-14506855-ATAAACT-A
MyVariant Identifiers: chr12:g.14659790_14659795del (hg19) chr12:g.14506856_14506861del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506858_14506863del , CM000674.2:g.14506858_14506863del GRCh38
NC_000012.11:g.14659792_14659797del , CM000674.1:g.14659792_14659797del GRCh37
NC_000012.10:g.14551059_14551064del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1372+72_1372+77del MANE Select ENSP00000240617.5:n.1372+72_1372+77del
ENST00000240617.9:c.1372+72_1372+77del ENSP00000240617.5:n.1372+72_1372+77del
NM_024829.5:c.1372+72_1372+77del NP_079105.4:n.1372+72_1372+77del
NM_024829.6:c.1372+72_1372+77del MANE Select NP_079105.4:n.1372+72_1372+77del
Search 100 bp 5'
Search 100 bp 3'