Canonical Allele Identifier: CA2597452021
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v3: 16-67940100-C-CTGCGGGCCCCCA
gnomAD v4: 16-67940100-C-CTGCGGGCCCCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940106_67940107insCCCCCATGCGGG , CM000678.2:g.67940106_67940107insCCCCCATGCGGG GRCh38
NC_000016.9:g.67974009_67974010insCCCCCATGCGGG , CM000678.1:g.67974009_67974010insCCCCCATGCGGG GRCh37
NC_000016.8:g.66531510_66531511insCCCCCATGCGGG NCBI36
NG_009778.1:g.9012_9013insTGGGGGCCCGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1126_1127insTGGGGGCCCGCA MANE Select ENSP00000264005.5:p.Arg375_Ser376insMetGlyAlaArg
ENST00000264005.9:c.1126_1127insTGGGGGCCCGCA ENSP00000264005.5:p.Arg375_Ser376insMetGlyAlaArg
ENST00000570369.5:c.156-27_156-26insTGGGGGCCCGCA
ENST00000573538.5:c.864_865insTGGGGGCCCGCA ENSP00000463220.1:n.864_865insTGGGGGCCCGCA
NM_000229.1:c.1126_1127insTGGGGGCCCGCA NP_000220.1:p.Arg375_Ser376insMetGlyAlaArg
NM_000229.2:c.1126_1127insTGGGGGCCCGCA MANE Select NP_000220.1:p.Arg375_Ser376insMetGlyAlaArg
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