Canonical Allele Identifier: CA2194719604

Gene: PLIN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89664891_89664898delinsGCAGGTGA , CM000677.2:g.89664891_89664898delinsGCAGGTGA	GRCh38
NC_000015.9:g.90208122_90208129delinsGCAGGTGA , CM000677.1:g.90208122_90208129delinsGCAGGTGA	GRCh37
NC_000015.8:g.88009126_88009133delinsGCAGGTGA	NCBI36
NG_029172.1:g.19520_19527delinsTCACCTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000300055.10:c.*685_*692delinsTCACCTGC MANE Select	ENSP00000300055.5:n.*685_*692delinsTCACCT...
ENST00000300055.9:c.*685_*692delinsTCACCTGC	ENSP00000300055.5:n.*685_*692delinsTCACCT...
ENST00000430628.2:c.*685_*692delinsTCACCTGC	ENSP00000402167.2:n.*685_*692delinsTCACCT...
ENST00000560330.1:c.167_174delinsTCACCTGC	ENSP00000453426.1:p.Phe56=
NM_001145311.1:c.*685_*692delinsTCACCTGC	NP_001138783.1:n.*685_*692delinsTCACCTGC
NM_002666.4:c.*685_*692delinsTCACCTGC	NP_002657.3:n.*685_*692delinsTCACCTGC
XM_005254934.3:c.*685_*692delinsTCACCTGC	XP_005254991.1:n.*685_*692delinsTCACCTGC
XM_005254934.4:c.*685_*692delinsTCACCTGC	XP_005254991.1:n.*685_*692delinsTCACCTGC
NM_002666.5:c.*685_*692delinsTCACCTGC MANE Select	NP_002657.3:n.*685_*692delinsTCACCTGC
NM_001145311.2:c.*685_*692delinsTCACCTGC	NP_001138783.1:n.*685_*692delinsTCACCTGC