Canonical Allele Identifier: CA2661274757

Gene: LCT

Linked Data

• gnomAD v4: 2-135800472-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135800474del , CM000664.2:g.135800474del	GRCh38
NC_000002.11:g.136558044del , CM000664.1:g.136558044del	GRCh37
NC_000002.10:g.136274514del	NCBI36
NG_008104.2:g.59697del , LRG_338:g.59697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264162.7:c.4866+134del MANE Select	ENSP00000264162.2:n.4866+134del
ENST00000264162.6:c.4866+134del	ENSP00000264162.2:n.4866+134del
ENST00000452974.1:c.2960-2335del	ENSP00000391231.1:n.2960-2335del
NM_002299.2:c.4866+134del , LRG_338t1:c.4866+134del	NP_002290.2:n.4866+134del
NM_002299.3:c.4866+134del	NP_002290.2:n.4866+134del
XM_017004088.2:c.4866+134del	XP_016859577.1:n.4866+134del
NM_002299.4:c.4866+134del MANE Select	NP_002290.2:n.4866+134del