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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_000017.11:g.63941803_63941814delinsTATGACCAGGAG , CM000679.2:g.63941803_63941814delinsTATGACCAGGAG
GRCh38
NC_000017.10:g.62019163_62019174delinsTATGACCAGGAG , CM000679.1:g.62019163_62019174delinsTATGACCAGGAG
GRCh37
NC_000017.9:g.59372895_59372906delinsTATGACCAGGAG
NCBI36
NG_011699.1:g.36105_36116delinsCTCCTGGTCATA
Transcript Alleles
HGVS
Amino-acid change
ENST00000435607.3:c.4468_4479delinsCTCCTGGTCATA
MANE Select
ENSP00000396320.1:p.Phe1490_Met1493delins...
ENST00000578147.5:c.4468_4479delinsCTCCTGGTCATA
ENSP00000463963.1:p.Phe1490_Met1493delins...
NM_000334.4:c.4468_4479delinsCTCCTGGTCATA
MANE Select
NP_000325.4:p.Phe1490_Met1493delinsLeuLeu...
XM_005257566.3:c.4468_4479delinsCTCCTGGTCATA
XP_005257623.1:p.Phe1490_Met1493delinsLeu...