Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.45143862_45143863delinsCT , CM000679.2:g.45143862_45143863delinsCT	GRCh38
NC_000017.10:g.43221229_43221230delinsCT , CM000679.1:g.43221229_43221230delinsCT	GRCh37
NC_000017.9:g.40577012_40577013delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321854.13:c.291_292delinsCT MANE Select	ENSP00000314440.8:n.291_292delinsCT
ENST00000321854.12:c.291_292delinsCT	ENSP00000314440.8:n.291_292delinsCT
ENST00000398322.7:c.291_292delinsCT	ENSP00000381367.2:n.291_292delinsCT
ENST00000431281.5:c.221_222delinsCT	ENSP00000405969.1:n.221_222delinsCT
ENST00000585553.5:n.1927_1928delinsCT
ENST00000591859.5:c.221_222delinsCT	ENSP00000465610.1:n.221_222delinsCT
ENST00000592162.5:c.259_260delinsCT	ENSP00000466305.1:n.259_260delinsCT
NM_001135704.1:c.221_222delinsCT	NP_001129176.1:n.221_222delinsCT
NM_001135705.1:c.291_292delinsCT	NP_001129177.1:n.291_292delinsCT
NM_001135706.1:c.221_222delinsCT	NP_001129178.1:n.221_222delinsCT
NM_024722.2:c.291_292delinsCT	NP_078998.1:n.291_292delinsCT
XM_005257673.1:c.221_222delinsCT	XP_005257730.1:n.221_222delinsCT
XM_005257674.1:c.221_222delinsCT	XP_005257731.1:n.221_222delinsCT
XM_005257677.1:c.221_222delinsCT	XP_005257734.1:n.221_222delinsCT
XM_006722085.1:c.291_292delinsCT	XP_006722148.1:n.291_292delinsCT
XM_006722088.1:c.291_292delinsCT	XP_006722151.1:n.291_292delinsCT
XM_006722089.1:c.259_260delinsCT	XP_006722152.1:n.259_260delinsCT
XM_006722090.1:c.259_260delinsCT	XP_006722153.1:n.259_260delinsCT
XM_011525255.1:c.221_222delinsCT	XP_011523557.1:n.221_222delinsCT
XM_011525256.1:c.221_222delinsCT	XP_011523558.1:n.221_222delinsCT
XM_011525257.1:c.291_292delinsCT	XP_011523559.1:n.291_292delinsCT
NM_001135705.2:c.291_292delinsCT	NP_001129177.1:n.291_292delinsCT
NM_001135706.2:c.221_222delinsCT	NP_001129178.1:n.221_222delinsCT
NM_001135707.2:c.1252_1253delinsCT	NP_001129179.1:n.1252_1253delinsCT
NM_001321352.1:c.221_222delinsCT	NP_001308281.1:n.221_222delinsCT
NM_001321353.1:c.221_222delinsCT	NP_001308282.1:n.221_222delinsCT
NM_024722.3:c.291_292delinsCT	NP_078998.1:n.291_292delinsCT
XM_006722085.2:c.291_292delinsCT	XP_006722148.1:n.291_292delinsCT
XM_017025084.1:c.221_222delinsCT	XP_016880573.1:n.221_222delinsCT
XM_017025085.1:c.221_222delinsCT	XP_016880574.1:n.221_222delinsCT
XM_017025086.1:c.221_222delinsCT	XP_016880575.1:n.221_222delinsCT
XM_017025087.1:c.221_222delinsCT	XP_016880576.1:n.221_222delinsCT
XM_017025088.1:c.221_222delinsCT	XP_016880577.1:n.221_222delinsCT
XM_017025089.2:c.1082_1083delinsCT	XP_016880578.1:n.1082_1083delinsCT
XM_017025090.1:c.291_292delinsCT	XP_016880579.1:n.291_292delinsCT
XM_017025091.1:c.291_292delinsCT	XP_016880580.1:n.291_292delinsCT
XM_017025092.2:c.291_292delinsCT	XP_016880581.1:n.291_292delinsCT
XM_017025094.1:c.1252_1253delinsCT	XP_016880583.1:n.1252_1253delinsCT
XM_017025095.1:c.291_292delinsCT	XP_016880584.1:n.291_292delinsCT
XM_017025096.1:c.259_260delinsCT	XP_016880585.1:n.259_260delinsCT
XM_017025097.1:c.291_292delinsCT	XP_016880586.1:n.291_292delinsCT
XM_017025098.1:c.291_292delinsCT	XP_016880587.1:n.291_292delinsCT
XM_017025099.1:c.259_260delinsCT	XP_016880588.1:n.259_260delinsCT
XM_024450949.1:c.1082_1083delinsCT	XP_024306717.1:n.1082_1083delinsCT
NM_001135705.3:c.291_292delinsCT MANE Select	NP_001129177.1:n.291_292delinsCT
NM_001135706.3:c.221_222delinsCT	NP_001129178.1:n.221_222delinsCT
NM_001135707.3:c.1252_1253delinsCT	NP_001129179.1:n.1252_1253delinsCT
NM_001321352.2:c.221_222delinsCT	NP_001308281.1:n.221_222delinsCT
NM_001321353.2:c.221_222delinsCT	NP_001308282.1:n.221_222delinsCT
NM_024722.4:c.291_292delinsCT	NP_078998.1:n.291_292delinsCT
NM_001378111.1:c.1252_1253delinsCT	NP_001365040.1:n.1252_1253delinsCT
NM_001378112.1:c.1252_1253delinsCT	NP_001365041.1:n.1252_1253delinsCT

HGVS	Amino-acid Change
ENST00000321854.13:c.291_292delinsCT MANE Select	ENSP00000314440.8:n.291_292delinsCT
ENST00000321854.12:c.291_292delinsCT	ENSP00000314440.8:n.291_292delinsCT
ENST00000398322.7:c.291_292delinsCT	ENSP00000381367.2:n.291_292delinsCT
ENST00000431281.5:c.221_222delinsCT	ENSP00000405969.1:n.221_222delinsCT
ENST00000585553.5:n.1927_1928delinsCT
ENST00000591859.5:c.221_222delinsCT	ENSP00000465610.1:n.221_222delinsCT
ENST00000592162.5:c.259_260delinsCT	ENSP00000466305.1:n.259_260delinsCT
NM_001135704.1:c.221_222delinsCT	NP_001129176.1:n.221_222delinsCT
NM_001135705.1:c.291_292delinsCT	NP_001129177.1:n.291_292delinsCT
NM_001135706.1:c.221_222delinsCT	NP_001129178.1:n.221_222delinsCT
NM_024722.2:c.291_292delinsCT	NP_078998.1:n.291_292delinsCT
XM_005257673.1:c.221_222delinsCT	XP_005257730.1:n.221_222delinsCT
XM_005257674.1:c.221_222delinsCT	XP_005257731.1:n.221_222delinsCT
XM_005257677.1:c.221_222delinsCT	XP_005257734.1:n.221_222delinsCT
XM_006722085.1:c.291_292delinsCT	XP_006722148.1:n.291_292delinsCT
XM_006722088.1:c.291_292delinsCT	XP_006722151.1:n.291_292delinsCT
XM_006722089.1:c.259_260delinsCT	XP_006722152.1:n.259_260delinsCT
XM_006722090.1:c.259_260delinsCT	XP_006722153.1:n.259_260delinsCT
XM_011525255.1:c.221_222delinsCT	XP_011523557.1:n.221_222delinsCT
XM_011525256.1:c.221_222delinsCT	XP_011523558.1:n.221_222delinsCT
XM_011525257.1:c.291_292delinsCT	XP_011523559.1:n.291_292delinsCT
NM_001135705.2:c.291_292delinsCT	NP_001129177.1:n.291_292delinsCT
NM_001135706.2:c.221_222delinsCT	NP_001129178.1:n.221_222delinsCT
NM_001135707.2:c.1252_1253delinsCT	NP_001129179.1:n.1252_1253delinsCT
NM_001321352.1:c.221_222delinsCT	NP_001308281.1:n.221_222delinsCT
NM_001321353.1:c.221_222delinsCT	NP_001308282.1:n.221_222delinsCT
NM_024722.3:c.291_292delinsCT	NP_078998.1:n.291_292delinsCT
XM_006722085.2:c.291_292delinsCT	XP_006722148.1:n.291_292delinsCT
XM_017025084.1:c.221_222delinsCT	XP_016880573.1:n.221_222delinsCT
XM_017025085.1:c.221_222delinsCT	XP_016880574.1:n.221_222delinsCT
XM_017025086.1:c.221_222delinsCT	XP_016880575.1:n.221_222delinsCT
XM_017025087.1:c.221_222delinsCT	XP_016880576.1:n.221_222delinsCT
XM_017025088.1:c.221_222delinsCT	XP_016880577.1:n.221_222delinsCT
XM_017025089.2:c.1082_1083delinsCT	XP_016880578.1:n.1082_1083delinsCT
XM_017025090.1:c.291_292delinsCT	XP_016880579.1:n.291_292delinsCT
XM_017025091.1:c.291_292delinsCT	XP_016880580.1:n.291_292delinsCT
XM_017025092.2:c.291_292delinsCT	XP_016880581.1:n.291_292delinsCT
XM_017025094.1:c.1252_1253delinsCT	XP_016880583.1:n.1252_1253delinsCT
XM_017025095.1:c.291_292delinsCT	XP_016880584.1:n.291_292delinsCT
XM_017025096.1:c.259_260delinsCT	XP_016880585.1:n.259_260delinsCT
XM_017025097.1:c.291_292delinsCT	XP_016880586.1:n.291_292delinsCT
XM_017025098.1:c.291_292delinsCT	XP_016880587.1:n.291_292delinsCT
XM_017025099.1:c.259_260delinsCT	XP_016880588.1:n.259_260delinsCT
XM_024450949.1:c.1082_1083delinsCT	XP_024306717.1:n.1082_1083delinsCT
NM_001135705.3:c.291_292delinsCT MANE Select	NP_001129177.1:n.291_292delinsCT
NM_001135706.3:c.221_222delinsCT	NP_001129178.1:n.221_222delinsCT
NM_001135707.3:c.1252_1253delinsCT	NP_001129179.1:n.1252_1253delinsCT
NM_001321352.2:c.221_222delinsCT	NP_001308281.1:n.221_222delinsCT
NM_001321353.2:c.221_222delinsCT	NP_001308282.1:n.221_222delinsCT
NM_024722.4:c.291_292delinsCT	NP_078998.1:n.291_292delinsCT
NM_001378111.1:c.1252_1253delinsCT	NP_001365040.1:n.1252_1253delinsCT
NM_001378112.1:c.1252_1253delinsCT	NP_001365041.1:n.1252_1253delinsCT