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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_000016.10:g.3727669del , CM000678.2:g.3727669del
GRCh38
NC_000016.9:g.3777670del , CM000678.1:g.3777670del
GRCh37
NC_000016.8:g.3717671del
NCBI36
NG_009873.1:g.157452del
NG_009873.2:g.158045del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262367.10:c.*49del
MANE Select
ENSP00000262367.5:n.*49del
ENST00000262367.9:c.*49del
ENSP00000262367.5:n.*49del
ENST00000382070.7:c.*49del
ENSP00000371502.3:n.*49del
NM_001079846.1:c.*49del
NP_001073315.1:n.*49del
NM_004380.2:c.*49del
NP_004371.2:n.*49del
XM_005255124.3:c.*49del
XP_005255181.1:n.*49del
XM_005255125.3:c.*49del
XP_005255182.1:n.*49del
XM_006720848.2:c.*49del
XP_006720911.1:n.*49del
XM_011522380.1:c.*49del
XP_011520682.1:n.*49del
XM_011522381.1:c.*49del
XP_011520683.1:n.*49del
XM_005255124.4:c.*49del
XP_005255181.1:n.*49del
XM_005255125.4:c.*49del
XP_005255182.1:n.*49del
XM_006720848.3:c.*49del
XP_006720911.1:n.*49del
XM_011522381.2:c.*49del
XP_011520683.1:n.*49del
XM_017022944.1:c.*49del
XP_016878433.1:n.*49del
NM_004380.3:c.*49del
MANE Select
NP_004371.2:n.*49del