Canonical Allele Identifier: CA173379125
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs10634207
gnomAD v2: 8-19815499-T-TTTTA
gnomAD v3: 8-19957988-T-TTTTA
gnomAD v4: 8-19957988-T-TTTTA
MyVariant Identifiers: chr8:g.19815515_19815516insTTTA (hg19) chr8:g.19815499_19815500insTTTA (hg19) chr8:g.19958004_19958005insTTTA (hg38) chr8:g.19957988_19957989insTTTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19958032_19958035dup , CM000670.2:g.19958032_19958035dup GRCh38
NC_000008.10:g.19815543_19815546dup , CM000670.1:g.19815543_19815546dup GRCh37
NC_000008.9:g.19859823_19859826dup NCBI36
NG_008855.1:g.23962_23965dup
NG_008855.2:g.61316_61319dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1019-1228_1019-1225dup MANE Select ENSP00000497642.1:n.1019-1228_1019-1225dup
ENST00000650478.1:c.79+1949_79+1952dup ENSP00000497560.1:n.79+1949_79+1952dup
ENST00000311322.8:c.1019-1228_1019-1225dup ENSP00000309757.6:n.1019-1228_1019-1225dup
NM_000237.2:c.1019-1228_1019-1225dup NP_000228.1:n.1019-1228_1019-1225dup
NM_000237.3:c.1019-1228_1019-1225dup MANE Select NP_000228.1:n.1019-1228_1019-1225dup
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