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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.7116762dup , CM000681.2:g.7116762dup
GRCh38
NC_000019.9:g.7116773dup , CM000681.1:g.7116773dup
GRCh37
NC_000019.8:g.7067773dup
NCBI36
NG_008852.2:g.182243dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000302850.10:c.*298dup
MANE Select
ENSP00000303830.4:n.*298dup
ENST00000302850.9:c.*298dup
ENSP00000303830.4:n.*298dup
ENST00000341500.9:c.*298dup
ENSP00000342838.4:n.*298dup
NM_000208.2:c.*298dup
NP_000199.2:n.*298dup
NM_000208.3:c.*298dup
NP_000199.2:n.*298dup
NM_001079817.1:c.*298dup
NP_001073285.1:n.*298dup
NM_001079817.2:c.*298dup
NP_001073285.1:n.*298dup
XM_011527988.1:c.*298dup
XP_011526290.1:n.*298dup
XM_011527989.1:c.*298dup
XP_011526291.1:n.*298dup
XM_011527988.2:c.*298dup
XP_011526290.2:n.*298dup
XM_011527989.3:c.*298dup
XP_011526291.2:n.*298dup
NM_000208.4:c.*298dup
MANE Select
NP_000199.2:n.*298dup
NM_001079817.3:c.*298dup
NP_001073285.1:n.*298dup