Canonical Allele Identifier: CA112981148
Gene: LPCAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1035104967
gnomAD v2: 5-1518510-CA-C
gnomAD v3: 5-1518395-CA-C
gnomAD v4: 5-1518395-CA-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1518396del , CM000667.2:g.1518396del GRCh38
NC_000005.9:g.1518511del , CM000667.1:g.1518511del GRCh37
NC_000005.8:g.1571511del NCBI36
NG_051622.1:g.10582del

Transcript Alleles

HGVS Amino-acid Change
ENST00000283415.4:c.135+5314del MANE Select ENSP00000283415.3:n.135+5314del
ENST00000283415.3:c.135+5314del ENSP00000283415.3:n.135+5314del
ENST00000475622.5:c.135+5314del ENSP00000423472.1:n.135+5314del
ENST00000514484.6:n.165+2951del
NM_024830.3:c.135+5314del NP_079106.3:n.135+5314del
XM_005248373.2:c.-10+2951del XP_005248430.1:n.-10+2951del
XM_011514133.1:c.201+7119del XP_011512435.1:n.201+7119del
NM_024830.4:c.135+5314del NP_079106.3:n.135+5314del
XM_005248373.3:c.-10+2951del XP_005248430.1:n.-10+2951del
NM_024830.5:c.135+5314del MANE Select NP_079106.3:n.135+5314del