Canonical Allele Identifier: CA2548255345
Gene: LCT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135797823del , CM000664.2:g.135797823del GRCh38
NC_000002.11:g.136555393del , CM000664.1:g.136555393del GRCh37
NC_000002.10:g.136271863del NCBI36
NG_008104.2:g.62349del , LRG_338:g.62349del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264162.7:c.4976+208del MANE Select ENSP00000264162.2:n.4976+208del
ENST00000264162.6:c.4976+208del ENSP00000264162.2:n.4976+208del
ENST00000452974.1:c.3069+208del ENSP00000391231.1:n.3069+208del
NM_002299.2:c.4976+208del , LRG_338t1:c.4976+208del NP_002290.2:n.4976+208del
NM_002299.3:c.4976+208del NP_002290.2:n.4976+208del
XM_017004088.2:c.4976+208del XP_016859577.1:n.4976+208del
NM_002299.4:c.4976+208del MANE Select NP_002290.2:n.4976+208del