Canonical Allele Identifier: CA1036793671
Gene: LCT HGNC NCBI

Linked Data

gnomAD v3: 2-135790049-C-CCGAG
gnomAD v4: 2-135790049-C-CCGAG
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135790049_135790050insCGAG , CM000664.2:g.135790049_135790050insCGAG GRCh38
NC_000002.11:g.136547619_136547620insCGAG , CM000664.1:g.136547619_136547620insCGAG GRCh37
NC_000002.10:g.136264089_136264090insCGAG NCBI36
NG_008104.2:g.70120_70121insCTCG , LRG_338:g.70120_70121insCTCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5336-252_5336-251insCTCG MANE Select ENSP00000264162.2:n.5336-252_5336-251insCTCG
ENST00000264162.6:c.5336-252_5336-251insCTCG ENSP00000264162.2:n.5336-252_5336-251insCTCG
NM_002299.2:c.5336-252_5336-251insCTCG , LRG_338t1:c.5336-252_5336-251insCTCG NP_002290.2:n.5336-252_5336-251insCTCG
NM_002299.3:c.5336-252_5336-251insCTCG NP_002290.2:n.5336-252_5336-251insCTCG
NM_002299.4:c.5336-252_5336-251insCTCG MANE Select NP_002290.2:n.5336-252_5336-251insCTCG
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