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