Canonical Allele Identifier: CA1290827661
Gene: LCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135800821_135800833delinsCACATGGATGTCA , CM000664.2:g.135800821_135800833delinsCACATGGATGTCA GRCh38
NC_000002.11:g.136558391_136558403delinsCACATGGATGTCA , CM000664.1:g.136558391_136558403delinsCACATGGATGTCA GRCh37
NC_000002.10:g.136274861_136274873delinsCACATGGATGTCA NCBI36
NG_008104.2:g.59337_59349delinsTGACATCCATGTG , LRG_338:g.59337_59349delinsTGACATCCATGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4664-24_4664-12delinsTGACATCCATGTG MANE Select ENSP00000264162.2:n.4664-24_4664-12delinsTGACATCCATGTG
ENST00000264162.6:c.4664-24_4664-12delinsTGACATCCATGTG ENSP00000264162.2:n.4664-24_4664-12delinsTGACATCCATGTG
ENST00000452974.1:c.2960-2695_2960-2683delinsTGACATCCATGTG ENSP00000391231.1:n.2960-2695_2960-2683delinsTGACATCCATGTG
NM_002299.2:c.4664-24_4664-12delinsTGACATCCATGTG , LRG_338t1:c.4664-24_4664-12delinsTGACATCCATGTG NP_002290.2:n.4664-24_4664-12delinsTGACATCCATGTG
NM_002299.3:c.4664-24_4664-12delinsTGACATCCATGTG NP_002290.2:n.4664-24_4664-12delinsTGACATCCATGTG
XM_017004088.2:c.4664-24_4664-12delinsTGACATCCATGTG XP_016859577.1:n.4664-24_4664-12delinsTGACATCCATGTG
NM_002299.4:c.4664-24_4664-12delinsTGACATCCATGTG MANE Select NP_002290.2:n.4664-24_4664-12delinsTGACATCCATGTG