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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.18130632dup , CM000668.2:g.18130632dup
GRCh38
NC_000006.11:g.18130863dup , CM000668.1:g.18130863dup
GRCh37
NC_000006.10:g.18238842dup
NCBI36
NG_012137.2:g.29516dup
NG_012137.3:g.29516dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000309983.5:c.*40dup
MANE Select
ENSP00000312304.4:n.*40dup
ENST00000309983.4:c.*40dup
ENSP00000312304.4:n.*40dup
NM_000367.3:c.*40dup
NP_000358.1:n.*40dup
XM_011514839.1:c.*40dup
XP_011513141.1:n.*40dup
XM_011514840.1:c.*40dup
XP_011513142.1:n.*40dup
NM_000367.4:c.*40dup
NP_000358.1:n.*40dup
NM_001346817.1:c.*40dup
NP_001333746.1:n.*40dup
NM_001346818.1:c.*40dup
NP_001333747.1:n.*40dup
NM_000367.5:c.*40dup
MANE Select
NP_000358.1:n.*40dup