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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_000023.11:g.108625705del , CM000685.2:g.108625705del
GRCh38
NC_000023.10:g.107868935del , CM000685.1:g.107868935del
GRCh37
NC_000023.9:g.107755591del
NCBI36
NG_011977.1:g.190782del
NG_011977.2:g.190782del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000328300.11:c.3017del
ENST00000361603.7:c.3017del
ENST00000328300.10:c.3017del
ENST00000361603.6:c.3017del
ENST00000483338.1:n.2473del
ENST00000505728.1:c.250del
NM_000495.4:c.3017del
NM_033380.2:c.3017del
XM_005262070.2:c.3017del
XM_005262072.3:c.3017del
XM_006724616.2:c.3017del
XM_011530849.1:c.2693del
XM_011530850.1:c.3017del
XM_011530851.1:c.590del
XM_011530849.2:c.3032del
XM_017029259.2:c.3032del
XM_017029260.1:c.3032del
XM_017029261.1:c.3032del
XM_017029262.2:c.3032del
XM_017029263.2:c.1352del
NM_000495.5:c.3017del
NM_033380.3:c.3017del