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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.8580450del , CM000681.2:g.8580450del
GRCh38
NC_000019.9:g.8645334del , CM000681.1:g.8645334del
GRCh37
NC_000019.8:g.8551334del
NCBI36
NG_011840.2:g.35255del
NG_052844.1:g.2000del
Transcript Alleles
HGVS
Amino-acid change
ENST00000597188.6:c.*445del
MANE Select
ENSP00000471851.1:n.*445del
ENST00000270328.8:c.*445del
ENSP00000270328.4:n.*445del
ENST00000595838.5:c.*445del
ENSP00000470501.1:n.*445del
NM_001282352.1:c.*445del
NP_001269281.1:n.*445del
NM_030957.3:c.*445del
NP_112219.3:n.*445del
XM_006722917.2:c.*445del
XP_006722980.1:n.*445del
XM_011528331.1:c.*445del
XP_011526633.1:n.*445del
XM_011528332.1:c.*445del
XP_011526634.1:n.*445del
XM_011528333.1:c.*445del
XP_011526635.1:n.*445del
XM_011528334.1:c.*445del
XP_011526636.1:n.*445del
XM_011528335.1:c.*445del
XP_011526637.1:n.*445del
XM_011528336.1:c.*445del
XP_011526638.1:n.*445del
XM_006722917.3:c.*445del
XP_006722980.1:n.*445del
XM_017027339.1:c.*445del
XP_016882828.1:n.*445del
XM_017027340.1:c.*445del
XP_016882829.1:n.*445del
NM_030957.4:c.*445del
MANE Select
NP_112219.3:n.*445del
NM_001282352.2:c.*445del
NP_001269281.1:n.*445del