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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.114505230del , CM000671.2:g.114505230del
GRCh38
NC_000009.11:g.117267510del , CM000671.1:g.117267510del
GRCh37
NC_000009.10:g.116307331del
NCBI36
NG_016700.1:g.5231del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000362057.4:c.-425del
MANE Select
ENSP00000354623.3:n.-425del
ENST00000673697.1:c.-282del
ENSP00000501152.1:n.-282del
ENST00000374057.3:c.-425del
ENSP00000363170.3:n.-425del
NM_001173425.1:c.-425del
NP_001166896.1:n.-425del
NM_015404.3:c.-425del
NP_056219.3:n.-425del
XM_005251897.3:c.-425del
XP_005251954.2:n.-425del
XM_011518484.1:c.-425del
XP_011516786.1:n.-425del
XM_011518485.1:c.-282del
XP_011516787.1:n.-282del
XM_011518486.1:c.-425del
XP_011516788.1:n.-425del
XM_011518487.1:c.-425del
XP_011516789.1:n.-425del
XM_011518488.1:c.-425del
XP_011516790.1:n.-425del
XM_011518489.1:c.-425del
XP_011516791.1:n.-425del
XM_011518490.1:c.-425del
XP_011516792.1:n.-425del
XM_011518491.1:c.-425del
XP_011516793.1:n.-425del
XM_011518492.1:c.-425del
XP_011516794.1:n.-425del
XM_011518493.1:c.-425del
XP_011516795.1:n.-425del
XM_011518494.1:c.-425del
XP_011516796.1:n.-425del
XR_929747.1:n.284del
XR_929748.1:n.284del
XR_929749.1:n.284del
XR_929750.1:n.284del
XR_929751.1:n.284del
XR_929752.1:n.284del
XR_929753.1:n.284del
XR_929754.1:n.284del
XR_929755.1:n.284del
XR_929756.1:n.284del
XR_929757.1:n.284del
NM_015404.4:c.-425del
MANE Select
NP_056219.3:n.-425del
NM_001173425.2:c.-425del
NP_001166896.1:n.-425del