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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.35438005del , CM000682.2:g.35438005del
GRCh38
NC_000020.10:g.34025785del , CM000682.1:g.34025785del
GRCh37
NC_000020.9:g.33489199del
NCBI36
NG_008076.2:g.5216del
NG_008076.3:g.21743del
Transcript Alleles
HGVS
Amino-acid change
ENST00000374369.8:c.-76del
MANE Select
ENSP00000363489.3:n.-76del
ENST00000374369.7:c.-76del
ENSP00000363489.3:n.-76del
ENST00000374372.1:c.-76del
ENSP00000363492.1:n.-76del
NM_000557.4:c.-76del
NP_000548.2:n.-76del
XM_011529075.1:c.-76del
XP_011527377.1:n.-76del
XM_011529076.1:c.-76del
XP_011527378.1:n.-76del
NM_001319138.1:c.-76del
NP_001306067.1:n.-76del
NM_000557.5:c.-76del
MANE Select
NP_000548.2:n.-76del
NM_001319138.2:c.-76del
NP_001306067.1:n.-76del