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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_000020.11:g.45947832del , CM000682.2:g.45947832del
GRCh38
NC_000020.10:g.44576471del , CM000682.1:g.44576471del
GRCh37
NC_000020.9:g.44009878del
NCBI36
NG_029772.1:g.29365del
Transcript Alleles
HGVS
Amino-acid change
ENST00000372409.8:c.*77del
MANE Select
ENSP00000361486.3:n.*77del
ENST00000372409.7:c.*77del
ENSP00000361486.3:n.*77del
ENST00000479348.2:c.1133del
NM_022104.3:c.*77del
NP_071387.1:n.*77del
XM_011528980.1:c.*77del
XP_011527282.1:n.*77del
XM_011528981.1:c.*77del
XP_011527283.1:n.*77del
XM_011528982.1:c.*77del
XP_011527284.1:n.*77del
XM_011528980.3:c.*77del
XP_011527282.1:n.*77del
XM_011528981.3:c.*77del
XP_011527283.1:n.*77del
XM_017028013.2:c.*77del
XP_016883502.1:n.*77del
XM_017028014.2:c.*77del
XP_016883503.1:n.*77del
NM_022104.4:c.*77del
MANE Select
NP_071387.1:n.*77del