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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1290821933
Gene: LCT
HGNC
NCBI
Linked Data
dbSNP Id:
rs2077504609
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.135787954del , CM000664.2:g.135787954del
GRCh38
NC_000002.11:g.136545524del , CM000664.1:g.136545524del
GRCh37
NC_000002.10:g.136261994del
NCBI36
NG_008104.2:g.72218del , LRG_338:g.72218del
Transcript Alleles
HGVS
Amino-acid change
ENST00000264162.7:c.*372del
MANE Select
ENSP00000264162.2:n.*372del
ENST00000264162.6:c.*372del
ENSP00000264162.2:n.*372del
NM_002299.2:c.*372del , LRG_338t1:c.*372del
NP_002290.2:n.*372del
NM_002299.3:c.*372del
NP_002290.2:n.*372del
NM_002299.4:c.*372del
MANE Select
NP_002290.2:n.*372del
Search 100 bp 5'
Search 100 bp 3'