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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.186613085del , CM000665.2:g.186613085del
GRCh38
NC_000003.11:g.186330874del , CM000665.1:g.186330874del
GRCh37
NC_000003.10:g.187813568del
NCBI36
NG_011436.1:g.5025del
Transcript Alleles
HGVS
Amino-acid change
ENST00000411641.7:c.-57del
MANE Select
ENSP00000393887.2:n.-57del
ENST00000273784.5:c.-57del
ENSP00000273784.5:n.-57del
ENST00000411641.6:c.-57del
ENSP00000393887.2:n.-57del
NM_001622.2:c.-57del
NP_001613.2:n.-57del
NM_001354571.1:c.-57del
NP_001341500.1:n.-57del
NM_001354572.1:c.-57del
NP_001341501.1:n.-57del
NM_001354573.1:c.-57del
NP_001341502.1:n.-57del
NM_001622.3:c.-57del
NP_001613.2:n.-57del
NM_001622.4:c.-57del
MANE Select
NP_001613.2:n.-57del
NM_001354571.2:c.-57del
NP_001341500.1:n.-57del
NM_001354572.2:c.-57del
NP_001341501.1:n.-57del
NM_001354573.2:c.-57del
NP_001341502.1:n.-57del