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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_000001.11:g.1512238del , CM000663.2:g.1512238del
GRCh38
NC_000001.10:g.1447618del , CM000663.1:g.1447618del
GRCh37
NC_000001.9:g.1437481del
NCBI36
NG_053035.1:g.5096del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378756.8:c.-31del
MANE Select
ENSP00000368031.3:n.-31del
ENST00000672388.1:n.74del
ENST00000378755.9:c.-31del
ENSP00000368030.5:n.-31del
ENST00000378756.7:c.-31del
ENSP00000368031.3:n.-31del
NM_001170535.1:c.-31del
NP_001164006.1:n.-31del
NM_018188.3:c.-31del
NP_060658.3:n.-31del
NM_001170535.2:c.-31del
NP_001164006.1:n.-31del
NM_018188.4:c.-31del
NP_060658.3:n.-31del
XM_024448098.1:c.-31del
XP_024303866.1:n.-31del
XR_001737282.1:n.96del
XR_002956997.1:n.96del
NM_001170535.3:c.-31del
MANE Select
NP_001164006.1:n.-31del
NM_018188.5:c.-31del
NP_060658.3:n.-31del