Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102843738_102843753delinsCAGCTCCAGGGGGAGA , CM000674.2:g.102843738_102843753delinsCAGCTCCAGGGGGAGA	GRCh38
NC_000012.11:g.103237516_103237531delinsCAGCTCCAGGGGGAGA , CM000674.1:g.103237516_103237531delinsCAGCTCCAGGGGGAGA	GRCh37
NC_000012.10:g.101761646_101761661delinsCAGCTCCAGGGGGAGA	NCBI36
NG_008690.1:g.78850_78865delinsTCTCCCCCTGGAGCTG
NG_008690.2:g.119658_119673delinsTCTCCCCCTGGAGCTG

HGVS	Amino-acid Change
ENST00000553106.6:c.1092_1107delinsTCTCCCCCTGGAGCTG MANE Select	ENSP00000448059.1:p.Leu364=
ENST00000307000.7:c.1077_1092delinsTCTCCCCCTGGAGCTG	ENSP00000303500.2:p.Leu359=
ENST00000549247.6:n.851_866delinsTCTCCCCCTGGAGCTG
ENST00000551114.2:n.754_769delinsTCTCCCCCTGGAGCTG
ENST00000553106.5:c.1092_1107delinsTCTCCCCCTGGAGCTG	ENSP00000448059.1:p.Leu364=
ENST00000635477.1:c.196_211delinsTCTCCCCCTGGAGCTG
ENST00000635528.1:n.607_622delinsTCTCCCCCTGGAGCTG
NM_000277.1:c.1092_1107delinsTCTCCCCCTGGAGCTG	NP_000268.1:p.Leu364=
XM_011538422.1:c.1035_1050delinsTCTCCCCCTGGAGCTG	XP_011536724.1:p.Leu345=
NM_000277.2:c.1092_1107delinsTCTCCCCCTGGAGCTG	NP_000268.1:p.Leu364=
NM_001354304.1:c.1092_1107delinsTCTCCCCCTGGAGCTG	NP_001341233.1:p.Leu364=
NM_000277.3:c.1092_1107delinsTCTCCCCCTGGAGCTG MANE Select	NP_000268.1:p.Leu364=
NM_001354304.2:c.1092_1107delinsTCTCCCCCTGGAGCTG	NP_001341233.1:p.Leu364=