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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_000002.12:g.167954910dup , CM000664.2:g.167954910dup
GRCh38
NC_000002.11:g.168811420dup , CM000664.1:g.168811420dup
GRCh37
NC_000002.10:g.168519666dup
NCBI36
NG_052783.1:g.297692dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000697205.1:c.2167dup
ENSP00000513185.1:n.2167dup
ENST00000355999.5:c.*592dup
MANE Select
ENSP00000348278.4:n.*592dup
ENST00000355999.4:c.*592dup
ENSP00000348278.4:n.*592dup
ENST00000487143.5:n.1330dup
NM_013233.2:c.*592dup
NP_037365.2:n.*592dup
XM_005246465.2:c.*592dup
XP_005246522.1:n.*592dup
XM_011510966.1:c.*592dup
XP_011509268.1:n.*592dup
XM_011510967.1:c.*592dup
XP_011509269.1:n.*592dup
NM_013233.3:c.*592dup
MANE Select
NP_037365.2:n.*592dup