Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102846923_102846934delinsGGTGCACCCAGA , CM000674.2:g.102846923_102846934delinsGGTGCACCCAGA	GRCh38
NC_000012.11:g.103240701_103240712delinsGGTGCACCCAGA , CM000674.1:g.103240701_103240712delinsGGTGCACCCAGA	GRCh37
NC_000012.10:g.101764831_101764842delinsGGTGCACCCAGA	NCBI36
NG_008690.1:g.75669_75680delinsTCTGGGTGCACC
NG_008690.2:g.116477_116488delinsTCTGGGTGCACC

HGVS	Amino-acid Change
ENST00000553106.6:c.930_941delinsTCTGGGTGCACC MANE Select	ENSP00000448059.1:p.Ser310=
ENST00000307000.7:c.915_926delinsTCTGGGTGCACC	ENSP00000303500.2:p.Ser305=
ENST00000549247.6:n.689_700delinsTCTGGGTGCACC
ENST00000551114.2:n.592_603delinsTCTGGGTGCACC
ENST00000553106.5:c.930_941delinsTCTGGGTGCACC	ENSP00000448059.1:p.Ser310=
ENST00000635477.1:c.74-2503_74-2492delinsTCTGGGTGCACC
ENST00000635528.1:n.445_456delinsTCTGGGTGCACC
NM_000277.1:c.930_941delinsTCTGGGTGCACC	NP_000268.1:p.Ser310=
XM_011538422.1:c.913-2503_913-2492delinsTCTGGGTGCACC	XP_011536724.1:n.913-2503_913-2492delinsTCTGGGTGCACC
NM_000277.2:c.930_941delinsTCTGGGTGCACC	NP_000268.1:p.Ser310=
NM_001354304.1:c.930_941delinsTCTGGGTGCACC	NP_001341233.1:p.Ser310=
NM_000277.3:c.930_941delinsTCTGGGTGCACC MANE Select	NP_000268.1:p.Ser310=
NM_001354304.2:c.930_941delinsTCTGGGTGCACC	NP_001341233.1:p.Ser310=