Allele Registry

HGVS	Genome Assembly
NC_000017.11:g.80118203_80118205delinsTCA , CM000679.2:g.80118203_80118205delinsTCA	GRCh38
NC_000017.10:g.78092002_78092004delinsTCA , CM000679.1:g.78092002_78092004delinsTCA	GRCh37
NC_000017.9:g.75706597_75706599delinsTCA	NCBI36
NG_009822.1:g.21648_21650delinsTCA , LRG_673:g.21648_21650delinsTCA

HGVS	Amino-acid Change
ENST00000570803.6:c.2492_2494delinsTCA	ENSP00000460543.2:p.Leu831=
ENST00000572080.2:c.630_632delinsTCA	ENSP00000459972.2:n.630_632delinsTCA
ENST00000577106.6:c.2492_2494delinsTCA	ENSP00000458306.2:p.Leu831=
ENST00000302262.8:c.2492_2494delinsTCA MANE Select	ENSP00000305692.3:p.Leu831=
ENST00000302262.7:c.2492_2494delinsTCA	ENSP00000305692.3:p.Leu831=
ENST00000390015.7:c.2492_2494delinsTCA	ENSP00000374665.3:p.Leu831=
ENST00000573556.1:n.445_447delinsTCA
NM_000152.3:c.2492_2494delinsTCA , LRG_673t1:c.2492_2494delinsTCA	NP_000143.2:p.Leu831=
NM_001079803.1:c.2492_2494delinsTCA	NP_001073271.1:p.Leu831=
NM_001079804.1:c.2492_2494delinsTCA	NP_001073272.1:p.Leu831=
XM_005257193.1:c.2492_2494delinsTCA	XP_005257250.1:p.Leu831=
XM_005257194.3:c.2492_2494delinsTCA	XP_005257251.1:p.Leu831=
NM_000152.4:c.2492_2494delinsTCA	NP_000143.2:p.Leu831=
NM_001079803.2:c.2492_2494delinsTCA	NP_001073271.1:p.Leu831=
NM_001079804.2:c.2492_2494delinsTCA	NP_001073272.1:p.Leu831=
XM_005257193.2:c.2492_2494delinsTCA	XP_005257250.1:p.Leu831=
XM_005257194.4:c.2492_2494delinsTCA	XP_005257251.1:p.Leu831=
NM_000152.5:c.2492_2494delinsTCA MANE Select	NP_000143.2:p.Leu831=
NM_001079803.3:c.2492_2494delinsTCA	NP_001073271.1:p.Leu831=
NM_001079804.3:c.2492_2494delinsTCA	NP_001073272.1:p.Leu831=