Canonical Allele Identifier: CA4655313

Gene: LPL

Linked Data

• ClinVar Variation Id: 495745
• ClinVar RCV Id: RCV000587541
• dbSNP Id: rs547644955
• ExAC: 8:19805676 AT / A
• gnomAD v2: 8-19805676-AT-A
• gnomAD v3: 8-19948165-AT-A
• gnomAD v4: 8-19948165-AT-A
• MyVariant Identifiers: chr8:g.19805681del (hg19) ; chr8:g.19805677del (hg19) ; chr8:g.19948170del (hg38) ; chr8:g.19948167del (hg38) ; chr8:g.19948166del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19948170del , CM000670.2:g.19948170del	GRCh38
NC_000008.10:g.19805681del , CM000670.1:g.19805681del	GRCh37
NC_000008.9:g.19849961del	NCBI36
NG_008855.1:g.14100del
NG_008855.2:g.51454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.89-10del MANE Select	ENSP00000497642.1:n.89-10del
ENST00000311322.8:c.89-10del	ENSP00000309757.6:n.89-10del
ENST00000519773.1:c.*126-10del	ENSP00000431028.1:n.*126-10del
ENST00000520959.5:c.-140-10del	ENSP00000428496.1:n.-140-10del
ENST00000521994.1:n.274-10del
ENST00000522701.5:c.89-10del	ENSP00000428557.1:n.89-10del
ENST00000523696.1:n.158-10del
ENST00000524029.5:c.89-10del	ENSP00000428237.1:n.89-10del
NM_000237.2:c.89-10del	NP_000228.1:n.89-10del
NM_000237.3:c.89-10del MANE Select	NP_000228.1:n.89-10del