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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:
CA2642016446
Gene: LMAN1
HGNC
NCBI
Linked Data
gnomAD v4:
18-59359250-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.59359252del , CM000680.2:g.59359252del
GRCh38
NC_000018.9:g.57026484del , CM000680.1:g.57026484del
GRCh37
NC_000018.8:g.55177464del
NCBI36
NG_012097.1:g.5026del
Transcript Alleles
HGVS
Amino-acid change
ENST00000251047.6:c.-7del
MANE Select
ENSP00000251047.4:n.-7del
ENST00000251047.5:c.-7del
ENSP00000251047.4:n.-7del
ENST00000587561.1:n.15del
NM_005570.3:c.-7del
NP_005561.1:n.-7del
NM_005570.4:c.-7del
MANE Select
NP_005561.1:n.-7del
Search 100 bp 5'
Search 100 bp 3'