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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:
CA2642016449
Gene: LMAN1
HGNC
NCBI
Linked Data
gnomAD v4:
18-59359258-ACG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.59359261_59359262del , CM000680.2:g.59359261_59359262del
GRCh38
NC_000018.9:g.57026493_57026494del , CM000680.1:g.57026493_57026494del
GRCh37
NC_000018.8:g.55177473_55177474del
NCBI36
NG_012097.1:g.5017_5018del
Transcript Alleles
HGVS
Amino-acid change
ENST00000251047.6:c.-16_-15del
MANE Select
ENSP00000251047.4:n.-16_-15del
ENST00000251047.5:c.-16_-15del
ENSP00000251047.4:n.-16_-15del
ENST00000587561.1:n.6_7del
NM_005570.3:c.-16_-15del
NP_005561.1:n.-16_-15del
NM_005570.4:c.-16_-15del
MANE Select
NP_005561.1:n.-16_-15del
Search 100 bp 5'
Search 100 bp 3'