Canonical Allele Identifier: CA215034
Gene: GPIHBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 144019
ClinVar RCV Id: RCV000133528
dbSNP Id: rs587777642
gnomAD v2: 8-144297250-GTCCCACCCTGGCAAAGC-G
gnomAD v3: 8-143215375-GTCCCACCCTGGCAAAGC-G
gnomAD v4: 8-143215375-GTCCCACCCTGGCAAAGC-G
MyVariant Identifiers: chr8:g.144297255_144297271del (hg19) chr8:g.144297251_144297267del (hg19) chr8:g.143215380_143215396del (hg38) chr8:g.143215376_143215392del (hg38)
PubMed: PMID:19304573 PMID:20124439 PMID:21816778 PMID:24614124
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143215380_143215396del , CM000670.2:g.143215380_143215396del GRCh38
NC_000008.10:g.144297255_144297271del , CM000670.1:g.144297255_144297271del GRCh37
NC_000008.9:g.144368630_144368646del NCBI36
NG_034256.1:g.7188_7204del

Transcript Alleles

HGVS Amino-acid change
ENST00000622500.2:c.417_433del MANE Select ENSP00000480053.1:p.Pro140SerfsTer?
ENST00000622500.1:c.417_433del ENSP00000480053.1:p.Pro140SerfsTer?
NM_001301772.1:c.375+42_375+58del NP_001288701.1:n.375+42_375+58del
NM_178172.5:c.417_433del NP_835466.2:p.Pro140SerfsTer?
NM_178172.6:c.417_433del MANE Select NP_835466.2:p.Pro140SerfsTer?
NM_001301772.2:c.375+42_375+58del NP_001288701.1:n.375+42_375+58del
Search 100 bp 5'
Search 100 bp 3'