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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.7116773del , CM000681.2:g.7116773del
GRCh38
NC_000019.9:g.7116784del , CM000681.1:g.7116784del
GRCh37
NC_000019.8:g.7067784del
NCBI36
NG_008852.2:g.182233del
Transcript Alleles
HGVS
Amino-acid change
ENST00000302850.10:c.*288del
MANE Select
ENSP00000303830.4:n.*288del
ENST00000302850.9:c.*288del
ENSP00000303830.4:n.*288del
ENST00000341500.9:c.*288del
ENSP00000342838.4:n.*288del
NM_000208.2:c.*288del
NP_000199.2:n.*288del
NM_000208.3:c.*288del
NP_000199.2:n.*288del
NM_001079817.1:c.*288del
NP_001073285.1:n.*288del
NM_001079817.2:c.*288del
NP_001073285.1:n.*288del
XM_011527988.1:c.*288del
XP_011526290.1:n.*288del
XM_011527989.1:c.*288del
XP_011526291.1:n.*288del
XM_011527988.2:c.*288del
XP_011526290.2:n.*288del
XM_011527989.3:c.*288del
XP_011526291.2:n.*288del
NM_000208.4:c.*288del
MANE Select
NP_000199.2:n.*288del
NM_001079817.3:c.*288del
NP_001073285.1:n.*288del