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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_000015.10:g.28111660del , CM000677.2:g.28111660del
GRCh38
NC_000015.9:g.28356806del , CM000677.1:g.28356806del
GRCh37
NC_000015.8:g.26030401del
NCBI36
NG_016355.1:g.215490del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000261609.13:c.*103del
MANE Select
ENSP00000261609.8:n.*103del
ENST00000650509.1:c.6087del
ENSP00000496936.1:n.6087del
ENST00000261609.11:c.*103del
ENSP00000261609.7:n.*103del
ENST00000566635.5:n.1733del
NM_004667.5:c.*103del
NP_004658.3:n.*103del
XM_005268276.3:c.*103del
XP_005268333.1:n.*103del
XM_005268277.3:c.*103del
XP_005268334.1:n.*103del
XM_006720726.2:c.*103del
XP_006720789.1:n.*103del
XM_006720727.2:c.*103del
XP_006720790.1:n.*103del
XM_011522131.1:c.*103del
XP_011520433.1:n.*103del
XM_011522132.1:c.*103del
XP_011520434.1:n.*103del
XM_011522133.1:c.*103del
XP_011520435.1:n.*103del
XM_011522134.1:c.*103del
XP_011520436.1:n.*103del
XM_005268276.5:c.*103del
XP_005268333.1:n.*103del
XM_006720726.3:c.*103del
XP_006720789.1:n.*103del
XM_006720727.3:c.*103del
XP_006720790.1:n.*103del
XM_017022695.1:c.*103del
XP_016878184.1:n.*103del
XM_017022696.1:c.*103del
XP_016878185.1:n.*103del
XM_017022697.1:c.*103del
XP_016878186.1:n.*103del
XM_017022698.1:c.*103del
XP_016878187.1:n.*103del
NM_004667.6:c.*103del
MANE Select
NP_004658.3:n.*103del