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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.
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.18130506dup , CM000668.2:g.18130506dup
GRCh38
NC_000006.11:g.18130737dup , CM000668.1:g.18130737dup
GRCh37
NC_000006.10:g.18238716dup
NCBI36
NG_012137.2:g.29643dup
NG_012137.3:g.29643dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000309983.5:c.*167dup
MANE Select
ENSP00000312304.4:n.*167dup
ENST00000309983.4:c.*167dup
ENSP00000312304.4:n.*167dup
NM_000367.3:c.*167dup
NP_000358.1:n.*167dup
XM_011514839.1:c.*167dup
XP_011513141.1:n.*167dup
XM_011514840.1:c.*167dup
XP_011513142.1:n.*167dup
NM_000367.4:c.*167dup
NP_000358.1:n.*167dup
NM_001346817.1:c.*167dup
NP_001333746.1:n.*167dup
NM_001346818.1:c.*167dup
NP_001333747.1:n.*167dup
NM_000367.5:c.*167dup
MANE Select
NP_000358.1:n.*167dup