Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49359222_49359224delinsAAG , CM000665.2:g.49359222_49359224delinsAAG	GRCh38
NC_000003.11:g.49396655_49396657delinsAAG , CM000665.1:g.49396655_49396657delinsAAG	GRCh37
NC_000003.10:g.49371659_49371661delinsAAG	NCBI36
NG_012264.1:g.4135_4137delinsCTT
NG_051308.1:g.57874_57876delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704381.1:c.464+1103_464+1105delinsCTT	ENSP00000515884.1:n.464+1103_464+1105delinsCTT
ENST00000418115.6:c.985_987delinsCTT MANE Select	ENSP00000400175.1:n.985_987delinsCTT
ENST00000422781.6:c.1142_1144delinsCTT	ENSP00000413587.1:n.1142_1144delinsCTT
ENST00000445425.6:c.985_987delinsCTT	ENSP00000408402.3:n.985_987delinsCTT
ENST00000454011.7:c.1173_1175delinsCTT	ENSP00000394483.2:n.1173_1175delinsCTT
ENST00000676712.2:c.985_987delinsCTT	ENSP00000504603.1:n.985_987delinsCTT
ENST00000678200.1:c.985_987delinsCTT	ENSP00000504180.1:n.985_987delinsCTT
ENST00000678921.2:c.3266_3268delinsCTT	ENSP00000503490.1:n.3266_3268delinsCTT
ENST00000679208.1:c.985_987delinsCTT	ENSP00000503282.1:n.985_987delinsCTT
ENST00000418115.5:c.985_987delinsCTT	ENSP00000400175.1:n.985_987delinsCTT
NM_001313941.1:c.985_987delinsCTT	NP_001300870.1:n.985_987delinsCTT
NM_001313943.1:c.1142_1144delinsCTT	NP_001300872.1:n.1142_1144delinsCTT
NM_001313944.1:c.985_987delinsCTT	NP_001300873.1:n.985_987delinsCTT
NM_001313945.1:c.985_987delinsCTT	NP_001300874.1:n.985_987delinsCTT
NM_001313946.1:c.985_987delinsCTT	NP_001300875.1:n.985_987delinsCTT
NM_001313947.1:c.1173_1175delinsCTT	NP_001300876.1:n.1173_1175delinsCTT
NM_001664.2:c.985_987delinsCTT	NP_001655.1:n.985_987delinsCTT
NM_001664.3:c.985_987delinsCTT	NP_001655.1:n.985_987delinsCTT
XM_011533695.1:c.985_987delinsCTT	XP_011531997.1:n.985_987delinsCTT
NM_001664.4:c.985_987delinsCTT MANE Select	NP_001655.1:n.985_987delinsCTT
NM_001313941.2:c.985_987delinsCTT	NP_001300870.1:n.985_987delinsCTT
NM_001313943.2:c.1142_1144delinsCTT	NP_001300872.1:n.1142_1144delinsCTT
NM_001313944.2:c.985_987delinsCTT	NP_001300873.1:n.985_987delinsCTT
NM_001313945.2:c.985_987delinsCTT	NP_001300874.1:n.985_987delinsCTT
NM_001313946.2:c.985_987delinsCTT	NP_001300875.1:n.985_987delinsCTT
NM_001313947.2:c.1173_1175delinsCTT	NP_001300876.1:n.1173_1175delinsCTT

HGVS	Amino-acid Change
ENST00000704381.1:c.464+1103_464+1105delinsCTT	ENSP00000515884.1:n.464+1103_464+1105delinsCTT
ENST00000418115.6:c.985_987delinsCTT MANE Select	ENSP00000400175.1:n.985_987delinsCTT
ENST00000422781.6:c.1142_1144delinsCTT	ENSP00000413587.1:n.1142_1144delinsCTT
ENST00000445425.6:c.985_987delinsCTT	ENSP00000408402.3:n.985_987delinsCTT
ENST00000454011.7:c.1173_1175delinsCTT	ENSP00000394483.2:n.1173_1175delinsCTT
ENST00000676712.2:c.985_987delinsCTT	ENSP00000504603.1:n.985_987delinsCTT
ENST00000678200.1:c.985_987delinsCTT	ENSP00000504180.1:n.985_987delinsCTT
ENST00000678921.2:c.3266_3268delinsCTT	ENSP00000503490.1:n.3266_3268delinsCTT
ENST00000679208.1:c.985_987delinsCTT	ENSP00000503282.1:n.985_987delinsCTT
ENST00000418115.5:c.985_987delinsCTT	ENSP00000400175.1:n.985_987delinsCTT
NM_001313941.1:c.985_987delinsCTT	NP_001300870.1:n.985_987delinsCTT
NM_001313943.1:c.1142_1144delinsCTT	NP_001300872.1:n.1142_1144delinsCTT
NM_001313944.1:c.985_987delinsCTT	NP_001300873.1:n.985_987delinsCTT
NM_001313945.1:c.985_987delinsCTT	NP_001300874.1:n.985_987delinsCTT
NM_001313946.1:c.985_987delinsCTT	NP_001300875.1:n.985_987delinsCTT
NM_001313947.1:c.1173_1175delinsCTT	NP_001300876.1:n.1173_1175delinsCTT
NM_001664.2:c.985_987delinsCTT	NP_001655.1:n.985_987delinsCTT
NM_001664.3:c.985_987delinsCTT	NP_001655.1:n.985_987delinsCTT
XM_011533695.1:c.985_987delinsCTT	XP_011531997.1:n.985_987delinsCTT
NM_001664.4:c.985_987delinsCTT MANE Select	NP_001655.1:n.985_987delinsCTT
NM_001313941.2:c.985_987delinsCTT	NP_001300870.1:n.985_987delinsCTT
NM_001313943.2:c.1142_1144delinsCTT	NP_001300872.1:n.1142_1144delinsCTT
NM_001313944.2:c.985_987delinsCTT	NP_001300873.1:n.985_987delinsCTT
NM_001313945.2:c.985_987delinsCTT	NP_001300874.1:n.985_987delinsCTT
NM_001313946.2:c.985_987delinsCTT	NP_001300875.1:n.985_987delinsCTT
NM_001313947.2:c.1173_1175delinsCTT	NP_001300876.1:n.1173_1175delinsCTT