Canonical Allele Identifier: CA2617768294
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14507058-G-GGATA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507060_14507063dup , CM000674.2:g.14507060_14507063dup GRCh38
NC_000012.11:g.14659994_14659997dup , CM000674.1:g.14659994_14659997dup GRCh37
NC_000012.10:g.14551261_14551264dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1243_1246dup MANE Select ENSP00000240617.5:p.Pro416LeufsTer15
ENST00000240617.9:c.1243_1246dup ENSP00000240617.5:p.Pro416LeufsTer15
NM_024829.5:c.1243_1246dup NP_079105.4:p.Pro416LeufsTer15
NM_024829.6:c.1243_1246dup MANE Select NP_079105.4:p.Pro416LeufsTer15
Search 100 bp 5'
Search 100 bp 3'