Canonical Allele Identifier: CA2577107816
Gene: LCT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135798120del , CM000664.2:g.135798120del GRCh38
NC_000002.11:g.136555690del , CM000664.1:g.136555690del GRCh37
NC_000002.10:g.136272160del NCBI36
NG_008104.2:g.62050del , LRG_338:g.62050del

Transcript Alleles

HGVS Amino-acid change
ENST00000264162.7:c.4885del MANE Select ENSP00000264162.2:p.Ala1629HisfsTer13
ENST00000264162.6:c.4885del ENSP00000264162.2:p.Ala1629HisfsTer13
ENST00000452974.1:c.2978del ENSP00000391231.1:p.Cys993SerfsTer?
NM_002299.2:c.4885del , LRG_338t1:c.4885del NP_002290.2:p.Ala1629HisfsTer13
NM_002299.3:c.4885del NP_002290.2:p.Ala1629HisfsTer13
XM_017004088.2:c.4885del XP_016859577.1:p.Ala1629HisfsTer13
NM_002299.4:c.4885del MANE Select NP_002290.2:p.Ala1629HisfsTer13
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