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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.114505316del , CM000671.2:g.114505316del
GRCh38
NC_000009.11:g.117267596del , CM000671.1:g.117267596del
GRCh37
NC_000009.10:g.116307417del
NCBI36
NG_016700.1:g.5144del
Transcript Alleles
HGVS
Amino-acid change
ENST00000362057.4:c.-512del
MANE Select
ENSP00000354623.3:n.-512del
ENST00000673697.1:c.-369del
ENSP00000501152.1:n.-369del
ENST00000374057.3:c.-512del
ENSP00000363170.3:n.-512del
NM_001173425.1:c.-512del
NP_001166896.1:n.-512del
NM_015404.3:c.-512del
NP_056219.3:n.-512del
XM_005251897.3:c.-512del
XP_005251954.2:n.-512del
XM_011518484.1:c.-512del
XP_011516786.1:n.-512del
XM_011518485.1:c.-369del
XP_011516787.1:n.-369del
XM_011518486.1:c.-512del
XP_011516788.1:n.-512del
XM_011518487.1:c.-512del
XP_011516789.1:n.-512del
XM_011518488.1:c.-512del
XP_011516790.1:n.-512del
XM_011518489.1:c.-512del
XP_011516791.1:n.-512del
XM_011518490.1:c.-512del
XP_011516792.1:n.-512del
XM_011518491.1:c.-512del
XP_011516793.1:n.-512del
XM_011518492.1:c.-512del
XP_011516794.1:n.-512del
XM_011518493.1:c.-512del
XP_011516795.1:n.-512del
XM_011518494.1:c.-512del
XP_011516796.1:n.-512del
XR_929747.1:n.197del
XR_929748.1:n.197del
XR_929749.1:n.197del
XR_929750.1:n.197del
XR_929751.1:n.197del
XR_929752.1:n.197del
XR_929753.1:n.197del
XR_929754.1:n.197del
XR_929755.1:n.197del
XR_929756.1:n.197del
XR_929757.1:n.197del
NM_015404.4:c.-512del
MANE Select
NP_056219.3:n.-512del
NM_001173425.2:c.-512del
NP_001166896.1:n.-512del