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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:
CA2576579894
Gene: TICAM1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.4816158del , CM000681.2:g.4816158del
GRCh38
NC_000019.9:g.4816170del , CM000681.1:g.4816170del
GRCh37
NC_000019.8:g.4767170del
NCBI36
NG_031998.1:g.20587del , LRG_358:g.20587del
Transcript Alleles
HGVS
Amino-acid change
ENST00000248244.6:c.*83del
MANE Select
ENSP00000248244.4:n.*83del
ENST00000248244.5:c.*83del
ENSP00000248244.4:n.*83del
NM_182919.3:c.*83del , LRG_358t1:c.*83del
NP_891549.1:n.*83del
NM_001385678.1:c.*83del
NP_001372607.1:n.*83del
NM_001385679.1:c.*83del
NP_001372608.1:n.*83del
NM_001385680.1:c.*83del
NP_001372609.1:n.*83del
NM_182919.4:c.*83del
MANE Select
NP_891549.1:n.*83del
Search 100 bp 5'
Search 100 bp 3'