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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.67436519_67436538delinsGTTAAACAGTCCTAATTGGC , CM000678.2:g.67436519_67436538delinsGTTAAACAGTCCTAATTGGC
GRCh38
NC_000016.9:g.67470422_67470441delinsGTTAAACAGTCCTAATTGGC , CM000678.1:g.67470422_67470441delinsGTTAAACAGTCCTAATTGGC
GRCh37
NC_000016.8:g.66027923_66027942delinsGTTAAACAGTCCTAATTGGC
NCBI36
NG_011482.1:g.49649_49668delinsGCCAATTAGGACTGTTTAAC
NG_016549.1:g.10387_10406delinsGTTAAACAGTCCTAATTGGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000326152.6:c.803-69_803-50delinsGTTAAACAGTCCTAATTGGC
MANE Select
ENSP00000316786.5:n.803-69_803-50delinsGTTAAACAGTCCTAATTGGC
ENST00000326152.5:c.803-69_803-50delinsGTTAAACAGTCCTAATTGGC
ENSP00000316786.5:n.803-69_803-50delinsGTTAAACAGTCCTAATTGGC
NM_000196.3:c.803-69_803-50delinsGTTAAACAGTCCTAATTGGC
NP_000187.3:n.803-69_803-50delinsGTTAAACAGTCCTAATTGGC
NM_000196.4:c.803-69_803-50delinsGTTAAACAGTCCTAATTGGC
MANE Select
NP_000187.3:n.803-69_803-50delinsGTTAAACAGTCCTAATTGGC