Canonical Allele Identifier: CA1290841194
Gene: LCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135832880_135832889delinsCCAGCAGAGG , CM000664.2:g.135832880_135832889delinsCCAGCAGAGG GRCh38
NC_000002.11:g.136590450_136590459delinsCCAGCAGAGG , CM000664.1:g.136590450_136590459delinsCCAGCAGAGG GRCh37
NC_000002.10:g.136306920_136306929delinsCCAGCAGAGG NCBI36
NG_008104.2:g.27281_27290delinsCCTCTGCTGG , LRG_338:g.27281_27290delinsCCTCTGCTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.720+222_720+231delinsCCTCTGCTGG MANE Select ENSP00000264162.2:n.720+222_720+231delinsCCTCTGCTGG
ENST00000264162.6:c.720+222_720+231delinsCCTCTGCTGG ENSP00000264162.2:n.720+222_720+231delinsCCTCTGCTGG
NM_002299.2:c.720+222_720+231delinsCCTCTGCTGG , LRG_338t1:c.720+222_720+231delinsCCTCTGCTGG NP_002290.2:n.720+222_720+231delinsCCTCTGCTGG
NM_002299.3:c.720+222_720+231delinsCCTCTGCTGG NP_002290.2:n.720+222_720+231delinsCCTCTGCTGG
XM_017004088.2:c.720+222_720+231delinsCCTCTGCTGG XP_016859577.1:n.720+222_720+231delinsCCTCTGCTGG
NM_002299.4:c.720+222_720+231delinsCCTCTGCTGG MANE Select NP_002290.2:n.720+222_720+231delinsCCTCTGCTGG