Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145695_44145696delinsAG , CM000669.2:g.44145695_44145696delinsAG	GRCh38
NC_000007.13:g.44185294_44185295delinsAG , CM000669.1:g.44185294_44185295delinsAG	GRCh37
NC_000007.12:g.44151819_44151820delinsAG	NCBI36
NG_008847.1:g.48728_48729delinsCT
NG_008847.2:g.57475_57476delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1052_1053delinsCT	ENSP00000379142.4:n.1052_1053delinsCT
ENST00000616242.5:c.174_175delinsCT	ENSP00000482149.2:n.174_175delinsCT
ENST00000683378.1:n.280_281delinsCT
ENST00000336642.9:c.88_89delinsCT	ENSP00000338009.5:p.Leu30=
ENST00000345378.7:c.1057_1058delinsCT	ENSP00000223366.2:p.Leu353=
ENST00000403799.8:c.1054_1055delinsCT MANE Select	ENSP00000384247.3:p.Leu352=
ENST00000671824.1:c.1117_1118delinsCT	ENSP00000500264.1:p.Leu373=
ENST00000672743.1:n.66_67delinsCT
ENST00000673284.1:c.1054_1055delinsCT	ENSP00000499852.1:p.Leu352=
ENST00000336642.8:c.106_107delinsCT	ENSP00000338009.4:p.Leu36=
ENST00000345378.6:c.1057_1058delinsCT	ENSP00000223366.2:p.Leu353=
ENST00000395796.7:c.1051_1052delinsCT	ENSP00000379142.3:p.Leu351=
ENST00000403799.7:c.1054_1055delinsCT	ENSP00000384247.3:p.Leu352=
ENST00000437084.1:c.1003_1004delinsCT	ENSP00000402840.1:p.Leu335=
ENST00000459642.1:n.434_435delinsCT
ENST00000473353.1:n.352_353delinsCT
ENST00000616242.4:c.1051_1052delinsCT	ENSP00000482149.1:p.Leu351=
NM_000162.3:c.1054_1055delinsCT	NP_000153.1:p.Leu352=
NM_033507.1:c.1057_1058delinsCT	NP_277042.1:p.Leu353=
NM_033508.1:c.1051_1052delinsCT	NP_277043.1:p.Leu351=
NM_000162.4:c.1054_1055delinsCT	NP_000153.1:p.Leu352=
NM_001354800.1:c.1054_1055delinsCT	NP_001341729.1:p.Leu352=
NM_001354801.1:c.43_44delinsCT	NP_001341730.1:p.Leu15=
NM_001354802.1:c.-87_-86delinsCT	NP_001341731.1:n.-87_-86delinsCT
NM_001354803.1:c.88_89delinsCT	NP_001341732.1:p.Leu30=
NM_033507.2:c.1057_1058delinsCT	NP_277042.1:p.Leu353=
NM_033508.2:c.1051_1052delinsCT	NP_277043.1:p.Leu351=
XM_024446707.1:c.-87_-86delinsCT	XP_024302475.1:n.-87_-86delinsCT
NM_000162.5:c.1054_1055delinsCT MANE Select	NP_000153.1:p.Leu352=
NM_033507.3:c.1057_1058delinsCT	NP_277042.1:p.Leu353=
NM_033508.3:c.1051_1052delinsCT	NP_277043.1:p.Leu351=
NM_001354803.2:c.88_89delinsCT	NP_001341732.1:p.Leu30=