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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_000020.11:g.44159956_44159977delinsTGCGGCCTCGTCGGCGCCCTCG , CM000682.2:g.44159956_44159977delinsTGCGGCCTCGTCGGCGCCCTCG
GRCh38
NC_000020.10:g.42788596_42788617delinsTGCGGCCTCGTCGGCGCCCTCG , CM000682.1:g.42788596_42788617delinsTGCGGCCTCGTCGGCGCCCTCG
GRCh37
NC_000020.9:g.42222010_42222031delinsTGCGGCCTCGTCGGCGCCCTCG
NCBI36
NG_031867.1:g.32602_32623delinsCGAGGGCGCCGACGAGGCCGCA , LRG_394:g.32602_32623delinsCGAGGGCGCCGACGAGGCCGCA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000372980.4:c.810_831delinsCGAGGGCGCCGACGAGGCCGCA
MANE Select
ENSP00000362071.3:p.Ala270=
ENST00000372980.3:c.810_831delinsCGAGGGCGCCGACGAGGCCGCA
ENSP00000362071.3:p.Ala270=
NM_020433.4:c.810_831delinsCGAGGGCGCCGACGAGGCCGCA , LRG_394t1:c.810_831delinsCGAGGGCGCCGACGAGGCCGCA
NP_065166.2:p.Ala270=
XM_006723832.2:c.810_831delinsCGAGGGCGCCGACGAGGCCGCA
XP_006723895.1:p.Ala270=
NM_020433.5:c.810_831delinsCGAGGGCGCCGACGAGGCCGCA
MANE Select
NP_065166.2:p.Ala270=