Allele Registry

HGVS	Genome Assembly
NC_000001.11:g.216246947_216246959delinsATGCACTGCCCTG , CM000663.2:g.216246947_216246959delinsATGCACTGCCCTG	GRCh38
NC_000001.10:g.216420289_216420301delinsATGCACTGCCCTG , CM000663.1:g.216420289_216420301delinsATGCACTGCCCTG	GRCh37
NC_000001.9:g.214486912_214486924delinsATGCACTGCCCTG	NCBI36
NG_009497.1:g.181438_181450delinsCAGGGCAGTGCAT
NG_009497.2:g.181490_181502delinsCAGGGCAGTGCAT

HGVS	Amino-acid Change
ENST00000307340.8:c.2435_2447delinsCAGGGCAGTGCAT MANE Select	ENSP00000305941.3:p.Thr812=
ENST00000674083.1:c.2435_2447delinsCAGGGCAGTGCAT	ENSP00000501296.1:p.Thr812=
ENST00000307340.7:c.2435_2447delinsCAGGGCAGTGCAT	ENSP00000305941.3:p.Thr812=
ENST00000366942.3:c.2435_2447delinsCAGGGCAGTGCAT	ENSP00000355909.3:p.Thr812=
NM_007123.5:c.2435_2447delinsCAGGGCAGTGCAT	NP_009054.5:p.Thr812=
NM_206933.2:c.2435_2447delinsCAGGGCAGTGCAT	NP_996816.2:p.Thr812=
NM_206933.3:c.2435_2447delinsCAGGGCAGTGCAT	NP_996816.2:p.Thr812=
NM_007123.6:c.2435_2447delinsCAGGGCAGTGCAT	NP_009054.6:p.Thr812=
NM_206933.4:c.2435_2447delinsCAGGGCAGTGCAT MANE Select	NP_996816.3:p.Thr812=