Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129101_46129104delinsGTGC , CM000682.2:g.46129101_46129104delinsGTGC	GRCh38
NC_000020.10:g.44757740_44757743delinsGTGC , CM000682.1:g.44757740_44757743delinsGTGC	GRCh37
NC_000020.9:g.44191147_44191150delinsGTGC	NCBI36
NG_007279.1:g.15835_15838delinsGTGC , LRG_40:g.15835_15838delinsGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.978_981delinsGTGC	ENSP00000512096.1:n.978_981delinsGTGC
ENST00000695675.1:n.2771_2774delinsGTGC
ENST00000372285.8:c.61_64delinsGTGC MANE Select	ENSP00000361359.3:n.61_64delinsGTGC
ENST00000372276.7:c.221_224delinsGTGC	ENSP00000361350.3:n.221_224delinsGTGC
ENST00000372285.7:c.61_64delinsGTGC	ENSP00000361359.3:n.61_64delinsGTGC
ENST00000466205.5:c.797_800delinsGTGC
ENST00000489304.5:n.971_974delinsGTGC
ENST00000620709.4:c.442_445delinsGTGC	ENSP00000484074.1:n.442_445delinsGTGC
NM_001250.5:c.61_64delinsGTGC	NP_001241.1:n.61_64delinsGTGC
NM_001302753.1:c.221_224delinsGTGC	NP_001289682.1:n.221_224delinsGTGC
NM_152854.3:c.221_224delinsGTGC	NP_690593.1:n.221_224delinsGTGC
NR_126502.1:n.988_991delinsGTGC
XM_005260617.2:c.61_64delinsGTGC	XP_005260674.1:n.61_64delinsGTGC
XM_005260619.2:c.61_64delinsGTGC	XP_005260676.1:n.61_64delinsGTGC
NM_001322421.1:c.61_64delinsGTGC	NP_001309350.1:n.61_64delinsGTGC
NM_001322422.1:c.61_64delinsGTGC	NP_001309351.1:n.61_64delinsGTGC
NM_001362758.1:c.221_224delinsGTGC	NP_001349687.1:n.221_224delinsGTGC
NR_136327.1:n.891_894delinsGTGC
XM_005260619.3:c.61_64delinsGTGC	XP_005260676.1:n.61_64delinsGTGC
XM_017028135.1:c.930_933delinsGTGC	XP_016883624.1:p.Trp310=
XM_017028136.1:c.828_831delinsGTGC	XP_016883625.1:p.Trp276=
NM_001250.6:c.61_64delinsGTGC MANE Select	NP_001241.1:n.61_64delinsGTGC
NM_001302753.2:c.221_224delinsGTGC	NP_001289682.1:n.221_224delinsGTGC
NM_001322421.2:c.61_64delinsGTGC	NP_001309350.1:n.61_64delinsGTGC
NM_001322422.2:c.61_64delinsGTGC	NP_001309351.1:n.61_64delinsGTGC
NM_001362758.2:c.221_224delinsGTGC	NP_001349687.1:n.221_224delinsGTGC
NM_152854.4:c.221_224delinsGTGC	NP_690593.1:n.221_224delinsGTGC
NR_126502.2:n.928_931delinsGTGC
NR_136327.2:n.831_834delinsGTGC

HGVS	Amino-acid Change
ENST00000489304.6:c.978_981delinsGTGC	ENSP00000512096.1:n.978_981delinsGTGC
ENST00000695675.1:n.2771_2774delinsGTGC
ENST00000372285.8:c.61_64delinsGTGC MANE Select	ENSP00000361359.3:n.61_64delinsGTGC
ENST00000372276.7:c.221_224delinsGTGC	ENSP00000361350.3:n.221_224delinsGTGC
ENST00000372285.7:c.61_64delinsGTGC	ENSP00000361359.3:n.61_64delinsGTGC
ENST00000466205.5:c.797_800delinsGTGC
ENST00000489304.5:n.971_974delinsGTGC
ENST00000620709.4:c.442_445delinsGTGC	ENSP00000484074.1:n.442_445delinsGTGC
NM_001250.5:c.61_64delinsGTGC	NP_001241.1:n.61_64delinsGTGC
NM_001302753.1:c.221_224delinsGTGC	NP_001289682.1:n.221_224delinsGTGC
NM_152854.3:c.221_224delinsGTGC	NP_690593.1:n.221_224delinsGTGC
NR_126502.1:n.988_991delinsGTGC
XM_005260617.2:c.61_64delinsGTGC	XP_005260674.1:n.61_64delinsGTGC
XM_005260619.2:c.61_64delinsGTGC	XP_005260676.1:n.61_64delinsGTGC
NM_001322421.1:c.61_64delinsGTGC	NP_001309350.1:n.61_64delinsGTGC
NM_001322422.1:c.61_64delinsGTGC	NP_001309351.1:n.61_64delinsGTGC
NM_001362758.1:c.221_224delinsGTGC	NP_001349687.1:n.221_224delinsGTGC
NR_136327.1:n.891_894delinsGTGC
XM_005260619.3:c.61_64delinsGTGC	XP_005260676.1:n.61_64delinsGTGC
XM_017028135.1:c.930_933delinsGTGC	XP_016883624.1:p.Trp310=
XM_017028136.1:c.828_831delinsGTGC	XP_016883625.1:p.Trp276=
NM_001250.6:c.61_64delinsGTGC MANE Select	NP_001241.1:n.61_64delinsGTGC
NM_001302753.2:c.221_224delinsGTGC	NP_001289682.1:n.221_224delinsGTGC
NM_001322421.2:c.61_64delinsGTGC	NP_001309350.1:n.61_64delinsGTGC
NM_001322422.2:c.61_64delinsGTGC	NP_001309351.1:n.61_64delinsGTGC
NM_001362758.2:c.221_224delinsGTGC	NP_001349687.1:n.221_224delinsGTGC
NM_152854.4:c.221_224delinsGTGC	NP_690593.1:n.221_224delinsGTGC
NR_126502.2:n.928_931delinsGTGC
NR_136327.2:n.831_834delinsGTGC