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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.7116766dup , CM000681.2:g.7116766dup
GRCh38
NC_000019.9:g.7116777dup , CM000681.1:g.7116777dup
GRCh37
NC_000019.8:g.7067777dup
NCBI36
NG_008852.2:g.182237dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000302850.10:c.*292dup
MANE Select
ENSP00000303830.4:n.*292dup
ENST00000302850.9:c.*292dup
ENSP00000303830.4:n.*292dup
ENST00000341500.9:c.*292dup
ENSP00000342838.4:n.*292dup
NM_000208.2:c.*292dup
NP_000199.2:n.*292dup
NM_000208.3:c.*292dup
NP_000199.2:n.*292dup
NM_001079817.1:c.*292dup
NP_001073285.1:n.*292dup
NM_001079817.2:c.*292dup
NP_001073285.1:n.*292dup
XM_011527988.1:c.*292dup
XP_011526290.1:n.*292dup
XM_011527989.1:c.*292dup
XP_011526291.1:n.*292dup
XM_011527988.2:c.*292dup
XP_011526290.2:n.*292dup
XM_011527989.3:c.*292dup
XP_011526291.2:n.*292dup
NM_000208.4:c.*292dup
MANE Select
NP_000199.2:n.*292dup
NM_001079817.3:c.*292dup
NP_001073285.1:n.*292dup