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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.7116775del , CM000681.2:g.7116775del
GRCh38
NC_000019.9:g.7116786del , CM000681.1:g.7116786del
GRCh37
NC_000019.8:g.7067786del
NCBI36
NG_008852.2:g.182227del
Transcript Alleles
HGVS
Amino-acid change
ENST00000302850.10:c.*282del
MANE Select
ENSP00000303830.4:n.*282del
ENST00000302850.9:c.*282del
ENSP00000303830.4:n.*282del
ENST00000341500.9:c.*282del
ENSP00000342838.4:n.*282del
NM_000208.2:c.*282del
NP_000199.2:n.*282del
NM_000208.3:c.*282del
NP_000199.2:n.*282del
NM_001079817.1:c.*282del
NP_001073285.1:n.*282del
NM_001079817.2:c.*282del
NP_001073285.1:n.*282del
XM_011527988.1:c.*282del
XP_011526290.1:n.*282del
XM_011527989.1:c.*282del
XP_011526291.1:n.*282del
XM_011527988.2:c.*282del
XP_011526290.2:n.*282del
XM_011527989.3:c.*282del
XP_011526291.2:n.*282del
NM_000208.4:c.*282del
MANE Select
NP_000199.2:n.*282del
NM_001079817.3:c.*282del
NP_001073285.1:n.*282del