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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_000006.12:g.18130499del , CM000668.2:g.18130499del
GRCh38
NC_000006.11:g.18130730del , CM000668.1:g.18130730del
GRCh37
NC_000006.10:g.18238709del
NCBI36
NG_012137.2:g.29648del
NG_012137.3:g.29648del
Transcript Alleles
HGVS
Amino-acid change
ENST00000309983.5:c.*172del
MANE Select
ENSP00000312304.4:n.*172del
ENST00000309983.4:c.*172del
ENSP00000312304.4:n.*172del
NM_000367.3:c.*172del
NP_000358.1:n.*172del
XM_011514839.1:c.*172del
XP_011513141.1:n.*172del
XM_011514840.1:c.*172del
XP_011513142.1:n.*172del
NM_000367.4:c.*172del
NP_000358.1:n.*172del
NM_001346817.1:c.*172del
NP_001333746.1:n.*172del
NM_001346818.1:c.*172del
NP_001333747.1:n.*172del
NM_000367.5:c.*172del
MANE Select
NP_000358.1:n.*172del