Canonical Allele Identifier: CA580208701
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1306444688
gnomAD v2: 8-19818154-ATGAT-A
gnomAD v3: 8-19960643-ATGAT-A
gnomAD v4: 8-19960643-ATGAT-A
MyVariant Identifiers: chr8:g.19818155_19818158del (hg19) chr8:g.19960644_19960647del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19960647_19960650del , CM000670.2:g.19960647_19960650del GRCh38
NC_000008.10:g.19818158_19818161del , CM000670.1:g.19818158_19818161del GRCh37
NC_000008.9:g.19862438_19862441del NCBI36
NG_008855.1:g.26577_26580del
NG_008855.2:g.63931_63934del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.1140-254_1140-251del MANE Select ENSP00000497642.1:n.1140-254_1140-251del
ENST00000650478.1:c.80-254_80-251del ENSP00000497560.1:n.80-254_80-251del
ENST00000311322.8:c.1140-254_1140-251del ENSP00000309757.6:n.1140-254_1140-251del
NM_000237.2:c.1140-254_1140-251del NP_000228.1:n.1140-254_1140-251del
NM_000237.3:c.1140-254_1140-251del MANE Select NP_000228.1:n.1140-254_1140-251del
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