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Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.56565337_56565364delinsTATAGGCCCTGTAGGCCCAGTCACCCCC , CM000685.2:g.56565337_56565364delinsTATAGGCCCTGTAGGCCCAGTCACCCCC
GRCh38
NC_000023.10:g.56591770_56591797delinsTATAGGCCCTGTAGGCCCAGTCACCCCC , CM000685.1:g.56591770_56591797delinsTATAGGCCCTGTAGGCCCAGTCACCCCC
GRCh37
NC_000023.9:g.56608495_56608522delinsTATAGGCCCTGTAGGCCCAGTCACCCCC
NCBI36
NG_016249.1:g.6745_6772delinsTATAGGCCCTGTAGGCCCAGTCACCCCC , LRG_665:g.6745_6772delinsTATAGGCCCTGTAGGCCCAGTCACCCCC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000338222.7:c.1464_1491delinsTATAGGCCCTGTAGGCCCAGTCACCCCC
MANE Select
ENSP00000345195.5:p.Ala488=
ENST00000338222.6:c.1464_1491delinsTATAGGCCCTGTAGGCCCAGTCACCCCC
ENSP00000345195.5:p.Ala488=
NM_013444.3:c.1464_1491delinsTATAGGCCCTGTAGGCCCAGTCACCCCC , LRG_665t1:c.1464_1491delinsTATAGGCCCTGTAGGCCCAGTCACCCCC
NP_038472.2:p.Ala488=
XM_011530837.1:c.273+1597_273+1624delinsTATAGGCCCTGTAGGCCCAGTCACCCCC
XP_011529139.1:n.273+1597_273+1624delinsTATAGGCCCTGTAGGCCCAGT...
NM_013444.4:c.1464_1491delinsTATAGGCCCTGTAGGCCCAGTCACCCCC
MANE Select
NP_038472.2:p.Ala488=