Canonical Allele Identifier: CA56599639
Community Standard Title: NM_002299.4(LCT):c.4977-260_4977-259dup
Gene: LCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135795045_135795046dup , CM000664.2:g.135795045_135795046dup GRCh38
NC_000002.11:g.136552615_136552616dup , CM000664.1:g.136552615_136552616dup GRCh37
NC_000002.10:g.136269085_136269086dup NCBI36
NG_008104.2:g.65135_65136dup , LRG_338:g.65135_65136dup

Transcript Alleles

HGVS Amino-acid Change
NM_002299.4:c.4977-260_4977-259dup MANE Select NP_002290.2:n.4977-260_4977-259dup
ENST00000264162.7:c.4977-260_4977-259dup MANE Select ENSP00000264162.2:n.4977-260_4977-259dup
NM_002299.2:c.4977-260_4977-259dup , LRG_338t1:c.4977-260_4977-259dup NP_002290.2:n.4977-260_4977-259dup
NM_002299.3:c.4977-260_4977-259dup NP_002290.2:n.4977-260_4977-259dup
ENST00000264162.6:c.4977-260_4977-259dup ENSP00000264162.2:n.4977-260_4977-259dup
ENST00000452974.1:c.3070-260_3070-259dup ENSP00000391231.1:n.3070-260_3070-259dup
XM_017004088.2:c.4977-260_4977-259dup XP_016859577.1:n.4977-260_4977-259dup