Canonical Allele Identifier: CA2686899412

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37765633-CGTAAGAGCCCTTTCCTGAAGCCCTTTGGAAGCATCATGATTGCCAGGCTTCTGACTTGTTCTGTTTTGACCTTTTAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765636_37765712del , CM000670.2:g.37765636_37765712del	GRCh38
NC_000008.10:g.37623154_37623230del , CM000670.1:g.37623154_37623230del	GRCh37
NC_000008.9:g.37742312_37742388del	NCBI36
NG_053030.1:g.8884_8960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.207+3_209del
ENST00000328195.7:c.207+3_209del
ENST00000518036.5:c.210_*61del	ENSP00000428005.1:n.[c.210_*61del;Arg71GlnfsTer?]
ENST00000520073.5:n.272+3_274del
ENST00000523187.5:c.51+3_53del
ENST00000523358.5:c.207+3_209del
ENST00000523994.1:n.212+3_214del
NM_007198.3:c.207+3_209del
NM_001349346.1:c.207+3_209del
NM_001349347.1:c.207+3_208-5del	NP_001336276.1:n.207+3_208-5del
NM_001349348.1:c.51+3_53del
NM_001349349.1:c.312+3_314del
NM_007198.4:c.207+3_209del
NM_001349346.2:c.207+3_209del
NM_001349347.2:c.207+3_208-5del	NP_001336276.1:n.207+3_208-5del
NM_001349348.2:c.51+3_53del