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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_000019.10:g.7116763del , CM000681.2:g.7116763del
GRCh38
NC_000019.9:g.7116774del , CM000681.1:g.7116774del
GRCh37
NC_000019.8:g.7067774del
NCBI36
NG_008852.2:g.182238del
Transcript Alleles
HGVS
Amino-acid change
ENST00000302850.10:c.*293del
MANE Select
ENSP00000303830.4:n.*293del
ENST00000302850.9:c.*293del
ENSP00000303830.4:n.*293del
ENST00000341500.9:c.*293del
ENSP00000342838.4:n.*293del
NM_000208.2:c.*293del
NP_000199.2:n.*293del
NM_000208.3:c.*293del
NP_000199.2:n.*293del
NM_001079817.1:c.*293del
NP_001073285.1:n.*293del
NM_001079817.2:c.*293del
NP_001073285.1:n.*293del
XM_011527988.1:c.*293del
XP_011526290.1:n.*293del
XM_011527989.1:c.*293del
XP_011526291.1:n.*293del
XM_011527988.2:c.*293del
XP_011526290.2:n.*293del
XM_011527989.3:c.*293del
XP_011526291.2:n.*293del
NM_000208.4:c.*293del
MANE Select
NP_000199.2:n.*293del
NM_001079817.3:c.*293del
NP_001073285.1:n.*293del