×
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_000017.11:g.80099839del , CM000679.2:g.80099839del
GRCh38
NC_000017.10:g.78073638del , CM000679.1:g.78073638del
GRCh37
NC_000017.9:g.75688233del
NCBI36
NG_009822.1:g.3284del , LRG_673:g.3284del
NG_029761.1:g.68208del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000397545.9:c.*64del
MANE Select
ENSP00000380679.4:n.*64del
ENST00000397545.8:c.*64del
ENSP00000380679.4:n.*64del
ENST00000574799.5:n.3030del
NM_017950.3:c.*64del
NP_060420.2:n.*64del
XM_011524963.1:c.*64del
XP_011523265.1:n.*64del
XM_011524964.1:c.*64del
XP_011523266.1:n.*64del
XM_011524963.3:c.*64del
XP_011523265.1:n.*64del
XM_011524964.3:c.*64del
XP_011523266.1:n.*64del
XM_024450821.1:c.*64del
XP_024306589.1:n.*64del
XR_934495.2:n.3611del
NM_017950.4:c.*64del
MANE Select
NP_060420.2:n.*64del