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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.39666056_39666074delinsGCACTTCGTCGCTCCCTGT , CM000679.2:g.39666056_39666074delinsGCACTTCGTCGCTCCCTGT
GRCh38
NC_000017.10:g.37822309_37822327delinsGCACTTCGTCGCTCCCTGT , CM000679.1:g.37822309_37822327delinsGCACTTCGTCGCTCCCTGT
GRCh37
NC_000017.9:g.35075835_35075853delinsGCACTTCGTCGCTCCCTGT
NCBI36
NG_008892.1:g.5711_5729delinsGCACTTCGTCGCTCCCTGT , LRG_210:g.5711_5729delinsGCACTTCGTCGCTCCCTGT
NG_042278.1:g.3076_3094delinsGCACTTCGTCGCTCCCTGT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000309889.3:c.451_469delinsGCACTTCGTCGCTCCCTGT
MANE Select
ENSP00000312624.2:p.Ala151=
ENST00000309889.2:c.451_469delinsGCACTTCGTCGCTCCCTGT
ENSP00000312624.2:p.Ala151=
ENST00000578283.1:c.379_397delinsGCACTTCGTCGCTCCCTGT
ENSP00000462787.1:p.Ala127=
NM_003673.3:c.451_469delinsGCACTTCGTCGCTCCCTGT , LRG_210t1:c.451_469delinsGCACTTCGTCGCTCCCTGT
NP_003664.1:p.Ala151=
NM_003673.4:c.451_469delinsGCACTTCGTCGCTCCCTGT
MANE Select
NP_003664.1:p.Ala151=