Canonical Allele Identifier: CA2597452021

Gene: LCAT

Linked Data

• gnomAD v3: 16-67940100-C-CTGCGGGCCCCCA
• gnomAD v4: 16-67940100-C-CTGCGGGCCCCCA

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