Canonical Allele Identifier: CA2617768288
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14506970-AGTCACTTTCCCTTG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506976_14506989del , CM000674.2:g.14506976_14506989del GRCh38
NC_000012.11:g.14659910_14659923del , CM000674.1:g.14659910_14659923del GRCh37
NC_000012.10:g.14551177_14551190del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1321_1334del MANE Select ENSP00000240617.5:p.Gln441Ter
ENST00000240617.9:c.1321_1334del ENSP00000240617.5:p.Gln441Ter
NM_024829.5:c.1321_1334del NP_079105.4:p.Gln441Ter
NM_024829.6:c.1321_1334del MANE Select NP_079105.4:p.Gln441Ter
Search 100 bp 5'
Search 100 bp 3'