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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_000006.12:g.49451596_49451597delinsCT , CM000668.2:g.49451596_49451597delinsCT
GRCh38
NC_000006.11:g.49419309_49419310delinsCT , CM000668.1:g.49419309_49419310delinsCT
GRCh37
NC_000006.10:g.49527268_49527269delinsCT
NCBI36
NG_007100.1:g.16543_16544delinsAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000274813.4:c.1201_1202delinsAG
MANE Select
ENSP00000274813.3:p.Ser401=
ENST00000274813.3:c.1201_1202delinsAG
ENSP00000274813.3:p.Ser401=
NM_000255.3:c.1201_1202delinsAG
NP_000246.2:p.Ser401=
XM_005249143.2:c.1201_1202delinsAG
XP_005249200.1:p.Ser401=
XM_005249143.3:c.1201_1202delinsAG
XP_005249200.1:p.Ser401=
NM_000255.4:c.1201_1202delinsAG
MANE Select
NP_000246.2:p.Ser401=