Allele Registry

HGVS	Genome Assembly
NC_000001.11:g.216246909_216246910insCACCCAACACA , CM000663.2:g.216246909_216246910insCACCCAACACA	GRCh38
NC_000001.10:g.216420251_216420252insCACCCAACACA , CM000663.1:g.216420251_216420252insCACCCAACACA	GRCh37
NC_000001.9:g.214486874_214486875insCACCCAACACA	NCBI36
NG_009497.1:g.181490_181491insGTTGGGTGTGT
NG_009497.2:g.181542_181543insGTTGGGTGTGT

HGVS	Amino-acid Change
ENST00000307340.8:c.2487_2488insGTTGGGTGTGT MANE Select	ENSP00000305941.3:p.Leu830ValfsTer30
ENST00000674083.1:c.2487_2488insGTTGGGTGTGT	ENSP00000501296.1:p.Leu830ValfsTer30
ENST00000307340.7:c.2487_2488insGTTGGGTGTGT	ENSP00000305941.3:p.Leu830ValfsTer30
ENST00000366942.3:c.2487_2488insGTTGGGTGTGT	ENSP00000355909.3:p.Leu830ValfsTer30
NM_007123.5:c.2487_2488insGTTGGGTGTGT	NP_009054.5:p.Leu830ValfsTer30
NM_206933.2:c.2487_2488insGTTGGGTGTGT	NP_996816.2:p.Leu830ValfsTer30
NM_206933.3:c.2487_2488insGTTGGGTGTGT	NP_996816.2:p.Leu830ValfsTer30
NM_007123.6:c.2487_2488insGTTGGGTGTGT	NP_009054.6:p.Leu830ValfsTer30
NM_206933.4:c.2487_2488insGTTGGGTGTGT MANE Select	NP_996816.3:p.Leu830ValfsTer30