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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:
CA2661278853
Gene: MCM6
HGNC
NCBI
Linked Data
gnomAD v4:
2-135859216-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.135859221del , CM000664.2:g.135859221del
GRCh38
NC_000002.11:g.136616791del , CM000664.1:g.136616791del
GRCh37
NC_000002.10:g.136333261del
NCBI36
NG_008104.2:g.953del , LRG_338:g.953del
NG_008958.1:g.22225del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264156.3:c.1362+84del
MANE Select
ENSP00000264156.2:n.1362+84del
ENST00000264156.2:c.1362+84del
ENSP00000264156.2:n.1362+84del
ENST00000492091.1:n.181+3390del
NM_005915.5:c.1362+84del
NP_005906.2:n.1362+84del
NM_005915.6:c.1362+84del
MANE Select
NP_005906.2:n.1362+84del
Search 100 bp 5'
Search 100 bp 3'