Allele Registry

HGVS	Genome Assembly
NC_000012.12:g.102855228_102855250delinsTCATAGCAAGCATGGGTTTTATA , CM000674.2:g.102855228_102855250delinsTCATAGCAAGCATGGGTTTTATA	GRCh38
NC_000012.11:g.103249006_103249028delinsTCATAGCAAGCATGGGTTTTATA , CM000674.1:g.103249006_103249028delinsTCATAGCAAGCATGGGTTTTATA	GRCh37
NC_000012.10:g.101773136_101773158delinsTCATAGCAAGCATGGGTTTTATA	NCBI36
NG_008690.1:g.67353_67375delinsTATAAAACCCATGCTTGCTATGA
NG_008690.2:g.108161_108183delinsTATAAAACCCATGCTTGCTATGA

HGVS	Amino-acid change
ENST00000553106.6:c.592_614delinsTATAAAACCCATGCTTGCTATGA MANE Select	ENSP00000448059.1:p.Tyr198=
ENST00000307000.7:c.577_599delinsTATAAAACCCATGCTTGCTATGA	ENSP00000303500.2:p.Tyr193=
ENST00000549111.5:n.688_710delinsTATAAAACCCATGCTTGCTATGA
ENST00000553106.5:c.592_614delinsTATAAAACCCATGCTTGCTATGA	ENSP00000448059.1:p.Tyr198=
NM_000277.1:c.592_614delinsTATAAAACCCATGCTTGCTATGA	NP_000268.1:p.Tyr198=
XM_011538422.1:c.592_614delinsTATAAAACCCATGCTTGCTATGA	XP_011536724.1:p.Tyr198=
NM_000277.2:c.592_614delinsTATAAAACCCATGCTTGCTATGA	NP_000268.1:p.Tyr198=
NM_001354304.1:c.592_614delinsTATAAAACCCATGCTTGCTATGA	NP_001341233.1:p.Tyr198=
XM_017019370.2:c.592_614delinsTATAAAACCCATGCTTGCTATGA	XP_016874859.1:p.Tyr198=
NM_000277.3:c.592_614delinsTATAAAACCCATGCTTGCTATGA MANE Select	NP_000268.1:p.Tyr198=
NM_001354304.2:c.592_614delinsTATAAAACCCATGCTTGCTATGA	NP_001341233.1:p.Tyr198=