Canonical Allele Identifier: CA757453425
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1247186582
gnomAD v3: 2-135788139-TG-T
gnomAD v4: 2-135788139-TG-T
MyVariant Identifiers: chr2:g.136545710del (hg19) chr2:g.135788140del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135788141del , CM000664.2:g.135788141del GRCh38
NC_000002.11:g.136545711del , CM000664.1:g.136545711del GRCh37
NC_000002.10:g.136262181del NCBI36
NG_008104.2:g.72030del , LRG_338:g.72030del

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.*184del MANE Select ENSP00000264162.2:n.*184del
ENST00000264162.6:c.*184del ENSP00000264162.2:n.*184del
NM_002299.2:c.*184del , LRG_338t1:c.*184del NP_002290.2:n.*184del
NM_002299.3:c.*184del NP_002290.2:n.*184del
NM_002299.4:c.*184del MANE Select NP_002290.2:n.*184del
Search 100 bp 5'
Search 100 bp 3'