Canonical Allele Identifier: CA2661275683
Gene: LCT HGNC NCBI

Linked Data

gnomAD v4: 2-135817207-TTCCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135817212_135817215del , CM000664.2:g.135817212_135817215del GRCh38
NC_000002.11:g.136574782_136574785del , CM000664.1:g.136574782_136574785del GRCh37
NC_000002.10:g.136291252_136291255del NCBI36
NG_008104.2:g.42959_42962del , LRG_338:g.42959_42962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.1707+130_1707+133del MANE Select ENSP00000264162.2:n.1707+130_1707+133del
ENST00000264162.6:c.1707+130_1707+133del ENSP00000264162.2:n.1707+130_1707+133del
NM_002299.2:c.1707+130_1707+133del , LRG_338t1:c.1707+130_1707+133del NP_002290.2:n.1707+130_1707+133del
NM_002299.3:c.1707+130_1707+133del NP_002290.2:n.1707+130_1707+133del
XM_017004088.2:c.1707+130_1707+133del XP_016859577.1:n.1707+130_1707+133del
NM_002299.4:c.1707+130_1707+133del MANE Select NP_002290.2:n.1707+130_1707+133del
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