Canonical Allele Identifier: CA1036793668
Gene: LCT HGNC NCBI

Linked Data

gnomAD v3: 2-135790047-A-ACC
gnomAD v4: 2-135790047-A-ACC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135790047_135790048insCC , CM000664.2:g.135790047_135790048insCC GRCh38
NC_000002.11:g.136547617_136547618insCC , CM000664.1:g.136547617_136547618insCC GRCh37
NC_000002.10:g.136264087_136264088insCC NCBI36
NG_008104.2:g.70122_70123insGG , LRG_338:g.70122_70123insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5336-250_5336-249insGG MANE Select ENSP00000264162.2:n.5336-250_5336-249insGG
ENST00000264162.6:c.5336-250_5336-249insGG ENSP00000264162.2:n.5336-250_5336-249insGG
NM_002299.2:c.5336-250_5336-249insGG , LRG_338t1:c.5336-250_5336-249insGG NP_002290.2:n.5336-250_5336-249insGG
NM_002299.3:c.5336-250_5336-249insGG NP_002290.2:n.5336-250_5336-249insGG
NM_002299.4:c.5336-250_5336-249insGG MANE Select NP_002290.2:n.5336-250_5336-249insGG
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