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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.49451600_49451602delinsTCA , CM000668.2:g.49451600_49451602delinsTCA
GRCh38
NC_000006.11:g.49419313_49419315delinsTCA , CM000668.1:g.49419313_49419315delinsTCA
GRCh37
NC_000006.10:g.49527272_49527274delinsTCA
NCBI36
NG_007100.1:g.16538_16540delinsTGA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000274813.4:c.1196_1198delinsTGA
MANE Select
ENSP00000274813.3:p.Val399=
ENST00000274813.3:c.1196_1198delinsTGA
ENSP00000274813.3:p.Val399=
NM_000255.3:c.1196_1198delinsTGA
NP_000246.2:p.Val399=
XM_005249143.2:c.1196_1198delinsTGA
XP_005249200.1:p.Val399=
XM_005249143.3:c.1196_1198delinsTGA
XP_005249200.1:p.Val399=
NM_000255.4:c.1196_1198delinsTGA
MANE Select
NP_000246.2:p.Val399=