Canonical Allele Identifier: CA2617768291
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14507031-T-TCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507032_14507034dup , CM000674.2:g.14507032_14507034dup GRCh38
NC_000012.11:g.14659966_14659968dup , CM000674.1:g.14659966_14659968dup GRCh37
NC_000012.10:g.14551233_14551235dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1271_1273dup MANE Select ENSP00000240617.5:p.Leu424_Asp425insVal
ENST00000240617.9:c.1271_1273dup ENSP00000240617.5:p.Leu424_Asp425insVal
NM_024829.5:c.1271_1273dup NP_079105.4:p.Leu424_Asp425insVal
NM_024829.6:c.1271_1273dup MANE Select NP_079105.4:p.Leu424_Asp425insVal
Search 100 bp 5'
Search 100 bp 3'