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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_000003.12:g.142712179del , CM000665.2:g.142712179del
GRCh38
NC_000003.11:g.142431021del , CM000665.1:g.142431021del
GRCh37
NC_000003.10:g.143913711del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000457734.7:c.*172del
MANE Select
ENSP00000387890.2:n.*172del
ENST00000337777.7:c.*172del
ENSP00000336831.3:n.*172del
ENST00000457734.6:c.*172del
ENSP00000387890.2:n.*172del
NM_001145319.1:c.*172del
NP_001138791.1:n.*172del
NM_001172312.1:c.*172del
NP_001165783.1:n.*172del
NM_002670.2:c.*172del
NP_002661.2:n.*172del
XM_006713660.2:c.*172del
XP_006713723.1:n.*172del
XM_011512900.1:c.*172del
XP_011511202.1:n.*172del
XM_011512901.1:c.*172del
XP_011511203.1:n.*172del
XM_011512902.1:c.*172del
XP_011511204.1:n.*172del
XM_011512903.1:c.*172del
XP_011511205.1:n.*172del
XM_006713660.3:c.*172del
XP_006713723.1:n.*172del
XM_011512900.2:c.*172del
XP_011511202.1:n.*172del
XM_011512903.2:c.*172del
XP_011511205.1:n.*172del
XM_017006626.1:c.*172del
XP_016862115.1:n.*172del
XM_017006627.1:c.*172del
XP_016862116.1:n.*172del
NM_001145319.2:c.*172del
MANE Select
NP_001138791.1:n.*172del
NM_002670.3:c.*172del
NP_002661.2:n.*172del
NM_001172312.2:c.*172del
NP_001165783.1:n.*172del