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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:
CA2576516053
Gene: LMAN1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.59359175_59359206del , CM000680.2:g.59359175_59359206del
GRCh38
NC_000018.9:g.57026407_57026438del , CM000680.1:g.57026407_57026438del
GRCh37
NC_000018.8:g.55177387_55177418del
NCBI36
NG_012097.1:g.5075_5106del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000251047.6:c.43_74del
MANE Select
ENSP00000251047.4:p.Pro15SerfsTer?
ENST00000251047.5:c.43_74del
ENSP00000251047.4:p.Pro15SerfsTer?
ENST00000587561.1:n.64_95del
NM_005570.3:c.43_74del
NP_005561.1:p.Pro15SerfsTer?
NM_005570.4:c.43_74del
MANE Select
NP_005561.1:p.Pro15SerfsTer?
Search 100 bp 5'
Search 100 bp 3'