×
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.186613089del , CM000665.2:g.186613089del
GRCh38
NC_000003.11:g.186330878del , CM000665.1:g.186330878del
GRCh37
NC_000003.10:g.187813572del
NCBI36
NG_011436.1:g.5029del
Transcript Alleles
HGVS
Amino-acid change
ENST00000411641.7:c.-53del
MANE Select
ENSP00000393887.2:n.-53del
ENST00000273784.5:c.-53del
ENSP00000273784.5:n.-53del
ENST00000411641.6:c.-53del
ENSP00000393887.2:n.-53del
ENST00000478441.1:n.5del
NM_001622.2:c.-53del
NP_001613.2:n.-53del
NM_001354571.1:c.-53del
NP_001341500.1:n.-53del
NM_001354572.1:c.-53del
NP_001341501.1:n.-53del
NM_001354573.1:c.-53del
NP_001341502.1:n.-53del
NM_001622.3:c.-53del
NP_001613.2:n.-53del
NM_001622.4:c.-53del
MANE Select
NP_001613.2:n.-53del
NM_001354571.2:c.-53del
NP_001341500.1:n.-53del
NM_001354572.2:c.-53del
NP_001341501.1:n.-53del
NM_001354573.2:c.-53del
NP_001341502.1:n.-53del