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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_000009.12:g.114505213del , CM000671.2:g.114505213del
GRCh38
NC_000009.11:g.117267493del , CM000671.1:g.117267493del
GRCh37
NC_000009.10:g.116307314del
NCBI36
NG_016700.1:g.5245del
Transcript Alleles
HGVS
Amino-acid change
ENST00000362057.4:c.-411del
MANE Select
ENSP00000354623.3:n.-411del
ENST00000673697.1:c.-268del
ENSP00000501152.1:n.-268del
ENST00000374057.3:c.-411del
ENSP00000363170.3:n.-411del
NM_001173425.1:c.-411del
NP_001166896.1:n.-411del
NM_015404.3:c.-411del
NP_056219.3:n.-411del
XM_005251897.3:c.-411del
XP_005251954.2:n.-411del
XM_011518484.1:c.-411del
XP_011516786.1:n.-411del
XM_011518485.1:c.-268del
XP_011516787.1:n.-268del
XM_011518486.1:c.-411del
XP_011516788.1:n.-411del
XM_011518487.1:c.-411del
XP_011516789.1:n.-411del
XM_011518488.1:c.-411del
XP_011516790.1:n.-411del
XM_011518489.1:c.-411del
XP_011516791.1:n.-411del
XM_011518490.1:c.-411del
XP_011516792.1:n.-411del
XM_011518491.1:c.-411del
XP_011516793.1:n.-411del
XM_011518492.1:c.-411del
XP_011516794.1:n.-411del
XM_011518493.1:c.-411del
XP_011516795.1:n.-411del
XM_011518494.1:c.-411del
XP_011516796.1:n.-411del
XR_929747.1:n.298del
XR_929748.1:n.298del
XR_929749.1:n.298del
XR_929750.1:n.298del
XR_929751.1:n.298del
XR_929752.1:n.298del
XR_929753.1:n.298del
XR_929754.1:n.298del
XR_929755.1:n.298del
XR_929756.1:n.298del
XR_929757.1:n.298del
NM_015404.4:c.-411del
MANE Select
NP_056219.3:n.-411del
NM_001173425.2:c.-411del
NP_001166896.1:n.-411del