Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31356194_31356195insGCGTGACAGTTTGAC , CM000668.2:g.31356194_31356195insGCGTGACAGTTTGAC	GRCh38
NC_000006.11:g.31323971_31323972insGCGTGACAGTTTGAC , CM000668.1:g.31323971_31323972insGCGTGACAGTTTGAC	GRCh37
NC_000006.10:g.31431950_31431951insGCGTGACAGTTTGAC	NCBI36
NG_023187.1:g.6018_6019insGTCAAACTGTCACGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474381.2:n.2064_2065insGTCAAACTGTCACGC
ENST00000481849.6:n.2064_2065insGTCAAACTGTCACGC
ENST00000497377.6:n.2064_2065insGTCAAACTGTCACGC
ENST00000640094.2:c.591_592insGTCAAACTGTCACGC	ENSP00000491275.2:p.Glu197_Asn198insValLysLeuSerArg
ENST00000696558.1:c.591_592insGTCAAACTGTCACGC	ENSP00000512716.1:p.Glu197_Asn198insValLysLeuSerArg
ENST00000696559.1:c.591_592insGTCAAACTGTCACGC	ENSP00000512717.1:p.Glu197_Asn198insValLysLeuSerArg
ENST00000696560.1:c.591_592insGTCAAACTGTCACGC	ENSP00000512718.1:p.Glu197_Asn198insValLysLeuSerArg
ENST00000696561.1:c.591_592insGTCAAACTGTCACGC	ENSP00000512719.1:p.Glu197_Asn198insValLysLeuSerArg
ENST00000696562.1:c.591_592insGTCAAACTGTCACGC	ENSP00000512720.1:p.Glu197_Asn198insValLysLeuSerArg
ENST00000412585.7:c.591_592insGTCAAACTGTCACGC MANE Select	ENSP00000399168.2:p.Glu197_Asn198insValLysLeuSerArg
ENST00000412585.6:c.591_592insGTCAAACTGTCACGC	ENSP00000399168.2:p.Glu197_Asn198insValLysLeuSerArg
ENST00000434333.1:c.624_625insGTCAAACTGTCACGC	ENSP00000405931.1:p.Glu208_Asn209insValLysLeuSerArg
ENST00000474381.1:n.466_467insGTCAAACTGTCACGC
ENST00000498007.1:n.857_858insGTCAAACTGTCACGC
NM_005514.6:c.591_592insGTCAAACTGTCACGC	NP_005505.2:p.Glu197_Asn198insValLysLeuSerArg
XM_011514556.1:c.624_625insGTCAAACTGTCACGC	XP_011512858.1:p.Glu208_Asn209insValLysLeuSerArg
XM_011514557.1:c.591_592insGTCAAACTGTCACGC	XP_011512859.1:p.Glu197_Asn198insValLysLeuSerArg
XR_926175.1:n.601_602insGTCAAACTGTCACGC
NM_005514.7:c.591_592insGTCAAACTGTCACGC	NP_005505.2:p.Glu197_Asn198insValLysLeuSerArg
NM_005514.8:c.591_592insGTCAAACTGTCACGC MANE Select	NP_005505.2:p.Glu197_Asn198insValLysLeuSerArg