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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_000017.11:g.43952811del , CM000679.2:g.43952811del
GRCh38
NC_000017.10:g.42030179del , CM000679.1:g.42030179del
GRCh37
NC_000017.9:g.39385705del
NCBI36
NG_023338.1:g.56663del
Transcript Alleles
HGVS
Amino-acid change
ENST00000592796.2:c.*298del
ENSP00000467310.1:n.*298del
ENST00000692052.1:c.*149del
MANE Select
ENSP00000509262.1:n.*149del
ENST00000360085.6:c.*149del
ENSP00000353198.1:n.*149del
NM_004160.4:c.*149del
NP_004151.3:n.*149del
XM_011525035.1:c.*149del
XP_011523337.1:n.*149del
NM_004160.5:c.*149del
NP_004151.3:n.*149del
NM_001394028.1:c.*149del
MANE Select
NP_001380957.1:n.*149del
NM_001394029.1:c.*298del
NP_001380958.1:n.*298del
NM_004160.6:c.*149del
NP_004151.4:n.*149del