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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:
CA1009905778
Gene: LAMC2
HGNC
NCBI
Linked Data
gnomAD v3:
1-183243184-AC-A
gnomAD v4:
1-183243184-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.183243185del , CM000663.2:g.183243185del
GRCh38
NC_000001.10:g.183212320del , CM000663.1:g.183212320del
GRCh37
NC_000001.9:g.181478943del
NCBI36
NG_007079.2:g.61922del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264144.5:c.3367del
MANE Select
ENSP00000264144.4:p.Leu1123TrpfsTer19
ENST00000264144.4:c.3367del
ENSP00000264144.4:p.Leu1123TrpfsTer19
NM_005562.2:c.3367del
NP_005553.2:p.Leu1123TrpfsTer19
NM_005562.3:c.3367del
MANE Select
NP_005553.2:p.Leu1123TrpfsTer19
Search 100 bp 5'
Search 100 bp 3'