×
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_000012.12:g.114354977del , CM000674.2:g.114354977del
GRCh38
NC_000012.11:g.114792782del , CM000674.1:g.114792782del
GRCh37
NC_000012.10:g.113277165del
NCBI36
NG_007373.1:g.58468del , LRG_670:g.58468del
Transcript Alleles
HGVS
Amino-acid change
ENST00000405440.7:c.*557del
MANE Select
ENSP00000384152.3:n.*557del
ENST00000310346.8:c.*557del
ENSP00000309913.4:n.*557del
ENST00000349716.9:c.*557del
ENSP00000337723.5:n.*557del
NM_000192.3:c.*557del , LRG_670t1:c.*557del
NP_000183.2:n.*557del
NM_080717.2:c.*557del
NP_542448.1:n.*557del
NM_181486.2:c.*557del
NP_852259.1:n.*557del
XM_017019912.1:c.*557del
XP_016875401.1:n.*557del
NM_080717.3:c.*557del
NP_542448.1:n.*557del
NM_181486.4:c.*557del
MANE Select
NP_852259.1:n.*557del
NM_080717.4:c.*557del
NP_542448.1:n.*557del