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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_000009.12:g.115381622_115381630delinsGATAGGTAT , CM000671.2:g.115381622_115381630delinsGATAGGTAT
GRCh38
NC_000009.11:g.118143901_118143909delinsGATAGGTAT , CM000671.1:g.118143901_118143909delinsGATAGGTAT
GRCh37
NC_000009.10:g.117183722_117183730delinsGATAGGTAT
NCBI36
NG_027530.1:g.244805_244813delinsGATAGGTAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000374016.5:c.13+4907_13+4915delinsGATAGGTAT
ENSP00000363128.1:n.13+4907_13+4915delinsGATAGGTAT
NM_017418.2:c.13+4907_13+4915delinsGATAGGTAT
NP_059114.1:n.13+4907_13+4915delinsGATAGGTAT
XM_011518753.1:c.13+4907_13+4915delinsGATAGGTAT
XP_011517055.1:n.13+4907_13+4915delinsGATAGGTAT
NR_163556.1:n.535+4907_535+4915delinsGATAGGTAT