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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.35438011del , CM000682.2:g.35438011del
GRCh38
NC_000020.10:g.34025791del , CM000682.1:g.34025791del
GRCh37
NC_000020.9:g.33489205del
NCBI36
NG_008076.2:g.5211del
NG_008076.3:g.21738del
Transcript Alleles
HGVS
Amino-acid change
ENST00000374369.8:c.-81del
MANE Select
ENSP00000363489.3:n.-81del
ENST00000374369.7:c.-81del
ENSP00000363489.3:n.-81del
ENST00000374372.1:c.-81del
ENSP00000363492.1:n.-81del
NM_000557.4:c.-81del
NP_000548.2:n.-81del
XM_011529075.1:c.-81del
XP_011527377.1:n.-81del
XM_011529076.1:c.-81del
XP_011527378.1:n.-81del
NM_001319138.1:c.-81del
NP_001306067.1:n.-81del
NM_000557.5:c.-81del
MANE Select
NP_000548.2:n.-81del
NM_001319138.2:c.-81del
NP_001306067.1:n.-81del