Canonical Allele Identifier: CA619527081

Gene: PLIN1

Linked Data

• dbSNP Id: rs1241388936
• gnomAD v2: 15-90208122-GCAGGTGA-G
• gnomAD v3: 15-89664891-GCAGGTGA-G
• gnomAD v4: 15-89664891-GCAGGTGA-G
• MyVariant Identifiers: chr15:g.90208123_90208129del (hg19) ; chr15:g.89664892_89664898del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89664892_89664898del , CM000677.2:g.89664892_89664898del	GRCh38
NC_000015.9:g.90208123_90208129del , CM000677.1:g.90208123_90208129del	GRCh37
NC_000015.8:g.88009127_88009133del	NCBI36
NG_029172.1:g.19520_19526del

Transcript Alleles

HGVS	Amino-acid change
ENST00000300055.10:c.*685_*691del MANE Select	ENSP00000300055.5:n.*685_*691del
ENST00000300055.9:c.*685_*691del	ENSP00000300055.5:n.*685_*691del
ENST00000430628.2:c.*685_*691del	ENSP00000402167.2:n.*685_*691del
ENST00000560330.1:c.167_173del	ENSP00000453426.1:p.Phe56SerfsTer2
NM_001145311.1:c.*685_*691del	NP_001138783.1:n.*685_*691del
NM_002666.4:c.*685_*691del	NP_002657.3:n.*685_*691del
XM_005254934.3:c.*685_*691del	XP_005254991.1:n.*685_*691del
XM_005254934.4:c.*685_*691del	XP_005254991.1:n.*685_*691del
NM_002666.5:c.*685_*691del MANE Select	NP_002657.3:n.*685_*691del
NM_001145311.2:c.*685_*691del	NP_001138783.1:n.*685_*691del