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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_000011.10:g.77142712del , CM000673.2:g.77142712del
GRCh38
NC_000011.9:g.76853758del , CM000673.1:g.76853758del
GRCh37
NC_000011.8:g.76531406del
NCBI36
NG_009086.1:g.19449del
NG_009086.2:g.19467del
Transcript Alleles
HGVS
Amino-acid change
ENST00000409709.9:c.22del
ENST00000660626.1:c.112del
ENST00000409619.6:c.-12del
ENST00000409709.7:c.22del
ENST00000409893.5:c.22del
ENST00000458637.6:c.22del
ENST00000620575.4:c.22del
NM_000260.3:c.22del
NM_001127179.2:c.22del
NM_001127180.1:c.22del
XM_005274012.2:c.22del
XM_006718558.2:c.22del
XM_006718559.2:c.22del
XM_006718560.2:c.22del
XM_006718561.2:c.22del
XM_011545044.1:c.22del
XM_011545045.1:c.22del
XM_011545046.1:c.-12del
XM_011545047.1:c.22del
XM_011545048.1:c.22del
XM_011545049.1:c.22del
XM_011545051.1:c.22del
XM_011545052.1:c.22del
XR_949938.1:n.342del
XR_949941.1:n.342del
XR_949942.1:n.344del
XR_949943.1:n.344del
XM_011545044.2:c.22del
XM_011545046.2:c.112del
XM_017017778.1:c.112del
XM_017017779.1:c.112del
XM_017017780.1:c.112del
XM_017017781.1:c.112del
XM_017017782.1:c.112del
XM_017017783.1:c.112del
XM_017017784.1:c.112del
XM_017017785.1:c.112del
XM_017017786.1:c.112del
XM_017017787.1:c.112del
XM_017017788.1:c.112del
XR_001747885.1:n.127del
XR_001747886.1:n.127del
XR_001747887.1:n.127del
XR_001747888.1:n.127del
XR_001747889.1:n.127del
NM_000260.4:c.22del
NM_001127180.2:c.22del
NM_001369365.1:c.-12del