Canonical Allele Identifier: CA2697551029
Gene: LCT HGNC NCBI

Linked Data

ClinVar Variation Id: 2696336
ClinVar RCV Id: RCV003542940
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135789620del , CM000664.2:g.135789620del GRCh38
NC_000002.11:g.136547190del , CM000664.1:g.136547190del GRCh37
NC_000002.10:g.136263660del NCBI36
NG_008104.2:g.70550del , LRG_338:g.70550del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.5514del MANE Select ENSP00000264162.2:p.Asn1838LysfsTer26
ENST00000264162.6:c.5514del ENSP00000264162.2:p.Asn1838LysfsTer26
NM_002299.2:c.5514del , LRG_338t1:c.5514del NP_002290.2:p.Asn1838LysfsTer26
NM_002299.3:c.5514del NP_002290.2:p.Asn1838LysfsTer26
NM_002299.4:c.5514del MANE Select NP_002290.2:p.Asn1838LysfsTer26
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