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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_000012.12:g.117215069del , CM000674.2:g.117215069del
GRCh38
NC_000012.11:g.117652874del , CM000674.1:g.117652874del
GRCh37
NC_000012.10:g.116137257del
NCBI36
NG_011991.2:g.151709del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000317775.11:c.*240del
MANE Select
ENSP00000320758.6:n.*240del
ENST00000317775.10:c.*240del
ENSP00000320758.6:n.*240del
ENST00000618760.4:c.*240del
ENSP00000477999.1:n.*240del
NM_000620.4:c.*240del
NP_000611.1:n.*240del
NM_001204213.1:c.*240del
NP_001191142.1:n.*240del
NM_001204214.1:c.*240del
NP_001191143.1:n.*240del
NM_001204218.1:c.*240del
NP_001191147.1:n.*240del
XM_011538398.1:c.*240del
XP_011536700.1:n.*240del
NM_000620.5:c.*240del
MANE Select
NP_000611.1:n.*240del
NM_001204213.2:c.*240del
NP_001191142.1:n.*240del
NM_001204214.2:c.*240del
NP_001191143.1:n.*240del
NM_001204218.2:c.*240del
NP_001191147.1:n.*240del