×
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.45678088del , CM000681.2:g.45678088del
GRCh38
NC_000019.9:g.46181346del , CM000681.1:g.46181346del
GRCh37
NC_000019.8:g.50873186del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000590918.6:c.1014del
ENST00000652180.1:c.831del
ENST00000263281.7:c.1014del
ENST00000304207.12:c.906del
ENST00000585889.1:c.*85del
ENST00000590918.5:c.1014del
ENST00000591224.1:n.470del
ENST00000593127.1:n.115del
NM_000164.2:c.1014del
NM_000164.3:c.1014del
NM_001308418.1:c.906del
XM_011526709.1:c.1140del
XM_011526710.1:c.1140del
XM_011526711.1:c.1032del
XM_011526712.1:c.906del
XM_011526713.1:c.891del
XM_011526714.1:c.723del
XM_011526715.1:c.723del
XR_935791.1:n.1033del
XM_011526709.2:c.1140del
XM_011526710.2:c.1140del
XM_011526711.2:c.1032del
XM_011526713.2:c.891del
XM_011526714.2:c.723del
XM_011526715.2:c.723del
XM_017026584.1:c.669del
XM_017026585.1:c.648del
XM_017026586.1:c.525del
XM_017026587.1:c.522del
XR_001753655.1:n.1109del
XR_935791.2:n.1039del
NM_000164.4:c.1014del
NM_001308418.2:c.906del