Canonical Allele Identifier: CA4655246

Gene: LPL

Linked Data

• dbSNP Id: rs776721089
• ExAC: 8:19796928 TCCTCCAGAGGGACGCGC / T
• gnomAD v2: 8-19796928-TCCTCCAGAGGGACGCGC-T
• gnomAD v4: 8-19939417-TCCTCCAGAGGGACGCGC-T
• MyVariant Identifiers: chr8:g.19796929_19796945del (hg19) ; chr8:g.19939418_19939434del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19939420_19939436del , CM000670.2:g.19939420_19939436del	GRCh38
NC_000008.10:g.19796931_19796947del , CM000670.1:g.19796931_19796947del	GRCh37
NC_000008.9:g.19841211_19841227del	NCBI36
NG_008855.1:g.5350_5366del
NG_008855.2:g.42704_42720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650287.1:c.-21_-5del MANE Select	ENSP00000497642.1:n.-21_-5del
ENST00000311322.8:c.-21_-5del	ENSP00000309757.6:n.-21_-5del
ENST00000519773.1:c.-21_-5del	ENSP00000431028.1:n.-21_-5del
ENST00000520959.5:c.-140-8760_-140-8744del	ENSP00000428496.1:n.-140-8760_-140-8744del
ENST00000521994.1:n.165_181del
ENST00000522701.5:c.-21_-5del	ENSP00000428557.1:n.-21_-5del
ENST00000523696.1:n.49_65del
ENST00000524029.5:c.-21_-5del	ENSP00000428237.1:n.-21_-5del
NM_000237.2:c.-21_-5del	NP_000228.1:n.-21_-5del
NM_000237.3:c.-21_-5del MANE Select	NP_000228.1:n.-21_-5del