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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_000001.11:g.183243091_183243094delinsAAGG , CM000663.2:g.183243091_183243094delinsAAGG
GRCh38
NC_000001.10:g.183212226_183212229delinsAAGG , CM000663.1:g.183212226_183212229delinsAAGG
GRCh37
NC_000001.9:g.181478849_181478852delinsAAGG
NCBI36
NG_007079.2:g.61828_61831delinsAAGG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264144.5:c.3329-56_3329-53delinsAAGG
MANE Select
ENSP00000264144.4:n.3329-56_3329-53delinsAAGG
ENST00000264144.4:c.3329-56_3329-53delinsAAGG
ENSP00000264144.4:n.3329-56_3329-53delinsAAGG
NM_005562.2:c.3329-56_3329-53delinsAAGG
NP_005553.2:n.3329-56_3329-53delinsAAGG
NM_005562.3:c.3329-56_3329-53delinsAAGG
MANE Select
NP_005553.2:n.3329-56_3329-53delinsAAGG