Canonical Allele Identifier: CA757454770
Gene: LCT HGNC NCBI

Linked Data

dbSNP Id: rs1224931378
gnomAD v4: 2-135789818-T-TA
MyVariant Identifiers: chr2:g.136547388_136547389insA (hg19) chr2:g.135789818_135789819insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789819dup , CM000664.2:g.135789819dup GRCh38
NC_000002.11:g.136547389dup , CM000664.1:g.136547389dup GRCh37
NC_000002.10:g.136263859dup NCBI36
NG_008104.2:g.70351dup , LRG_338:g.70351dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5336-21dup MANE Select ENSP00000264162.2:n.5336-21dup
ENST00000264162.6:c.5336-21dup ENSP00000264162.2:n.5336-21dup
NM_002299.2:c.5336-21dup , LRG_338t1:c.5336-21dup NP_002290.2:n.5336-21dup
NM_002299.3:c.5336-21dup NP_002290.2:n.5336-21dup
NM_002299.4:c.5336-21dup MANE Select NP_002290.2:n.5336-21dup
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