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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_000014.9:g.23424818_23424821delinsATCT , CM000676.2:g.23424818_23424821delinsATCT
GRCh38
NC_000014.8:g.23894027_23894030delinsATCT , CM000676.1:g.23894027_23894030delinsATCT
GRCh37
NC_000014.7:g.22963867_22963870delinsATCT
NCBI36
NG_007884.1:g.15841_15844delinsAGAT , LRG_384:g.15841_15844delinsAGAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2627_2630delinsAGAT
MANE Select
ENSP00000347507.3:p.Lys876=
ENST00000355349.3:c.2627_2630delinsAGAT
ENSP00000347507.3:p.Lys876=
NM_000257.3:c.2627_2630delinsAGAT
NP_000248.2:p.Lys876=
XR_245686.3:n.2733_2736delinsAGAT
XM_017021340.1:c.2627_2630delinsAGAT
XP_016876829.1:p.Lys876=
NM_000257.4:c.2627_2630delinsAGAT
MANE Select
NP_000248.2:p.Lys876=