Canonical Allele Identifier: CA2577107817
Gene: LCT HGNC NCBI

Linked Data

gnomAD v4: 2-135798123-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798125del , CM000664.2:g.135798125del GRCh38
NC_000002.11:g.136555695del , CM000664.1:g.136555695del GRCh37
NC_000002.10:g.136272165del NCBI36
NG_008104.2:g.62046del , LRG_338:g.62046del

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4881del MANE Select ENSP00000264162.2:p.Trp1627CysfsTer15
ENST00000264162.6:c.4881del ENSP00000264162.2:p.Trp1627CysfsTer15
ENST00000452974.1:c.2974del ENSP00000391231.1:p.Val992PhefsTer?
NM_002299.2:c.4881del , LRG_338t1:c.4881del NP_002290.2:p.Trp1627CysfsTer15
NM_002299.3:c.4881del NP_002290.2:p.Trp1627CysfsTer15
XM_017004088.2:c.4881del XP_016859577.1:p.Trp1627CysfsTer15
NM_002299.4:c.4881del MANE Select NP_002290.2:p.Trp1627CysfsTer15
Search 100 bp 5'
Search 100 bp 3'