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