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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_000019.10:g.8580661dup , CM000681.2:g.8580661dup
GRCh38
NC_000019.9:g.8645545dup , CM000681.1:g.8645545dup
GRCh37
NC_000019.8:g.8551545dup
NCBI36
NG_011840.2:g.35048dup
NG_052844.1:g.1793dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000597188.6:c.*238dup
MANE Select
ENSP00000471851.1:n.*238dup
ENST00000270328.8:c.*238dup
ENSP00000270328.4:n.*238dup
ENST00000595838.5:c.*238dup
ENSP00000470501.1:n.*238dup
NM_001282352.1:c.*238dup
NP_001269281.1:n.*238dup
NM_030957.3:c.*238dup
NP_112219.3:n.*238dup
XM_006722917.2:c.*238dup
XP_006722980.1:n.*238dup
XM_011528331.1:c.*238dup
XP_011526633.1:n.*238dup
XM_011528332.1:c.*238dup
XP_011526634.1:n.*238dup
XM_011528333.1:c.*238dup
XP_011526635.1:n.*238dup
XM_011528334.1:c.*238dup
XP_011526636.1:n.*238dup
XM_011528335.1:c.*238dup
XP_011526637.1:n.*238dup
XM_011528336.1:c.*238dup
XP_011526638.1:n.*238dup
XM_006722917.3:c.*238dup
XP_006722980.1:n.*238dup
XM_017027339.1:c.*238dup
XP_016882828.1:n.*238dup
XM_017027340.1:c.*238dup
XP_016882829.1:n.*238dup
NM_030957.4:c.*238dup
MANE Select
NP_112219.3:n.*238dup
NM_001282352.2:c.*238dup
NP_001269281.1:n.*238dup