Canonical Allele Identifier: CA2661274838
Gene: LCT HGNC NCBI

Linked Data

gnomAD v4: 2-135800730-C-CAGAT
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800731_135800734dup , CM000664.2:g.135800731_135800734dup GRCh38
NC_000002.11:g.136558301_136558304dup , CM000664.1:g.136558301_136558304dup GRCh37
NC_000002.10:g.136274771_136274774dup NCBI36
NG_008104.2:g.59436_59439dup , LRG_338:g.59436_59439dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4739_4742dup MANE Select ENSP00000264162.2:p.Tyr1582SerfsTer21
ENST00000264162.6:c.4739_4742dup ENSP00000264162.2:p.Tyr1582SerfsTer21
ENST00000452974.1:c.2960-2596_2960-2593dup ENSP00000391231.1:n.2960-2596_2960-2593dup
NM_002299.2:c.4739_4742dup , LRG_338t1:c.4739_4742dup NP_002290.2:p.Tyr1582SerfsTer21
NM_002299.3:c.4739_4742dup NP_002290.2:p.Tyr1582SerfsTer21
XM_017004088.2:c.4739_4742dup XP_016859577.1:p.Tyr1582SerfsTer21
NM_002299.4:c.4739_4742dup MANE Select NP_002290.2:p.Tyr1582SerfsTer21
Search 100 bp 5'
Search 100 bp 3'