Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222012_7222053delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA , CM000679.2:g.7222012_7222053delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	GRCh38
NC_000017.10:g.7125331_7125372delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA , CM000679.1:g.7125331_7125372delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	GRCh37
NC_000017.9:g.7066055_7066096delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	NCBI36
NG_007975.1:g.7179_7220delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
NG_008391.2:g.2998_3039delinsTATAGTATTTTCCACAGGGGCTGGGCACAGCAGAGGTTCGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA MANE Select	ENSP00000349297.5:p.Ile228=
ENST00000322910.9:c.638_679delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	ENSP00000325395.5:n.638_679delinsTCCGAACCTCTGCTGTGCCCAGCCCC...
ENST00000350303.9:c.617_658delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	ENSP00000344152.5:p.Ile206=
ENST00000356839.9:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	ENSP00000349297.5:p.Ile228=
ENST00000543245.6:c.752_793delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	ENSP00000438689.2:p.Ile251=
ENST00000577191.5:n.760_801delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
ENST00000577857.5:n.499_540delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
ENST00000579286.5:n.864_905delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
ENST00000580365.1:n.414_455delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
ENST00000581378.5:c.401_442delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
ENST00000582379.1:n.67_108delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
ENST00000583760.1:n.465_506delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
NM_000018.3:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	NP_000009.1:p.Ile228=
NM_001033859.2:c.617_658delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	NP_001029031.1:p.Ile206=
NM_001270447.1:c.752_793delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	NP_001257376.1:p.Ile251=
NM_001270448.1:c.455_496delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	NP_001257377.1:p.Ile152=
XM_006721516.2:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	XP_006721579.2:p.Ile228=
XM_011523829.1:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	XP_011522131.1:p.Ile228=
XM_011523830.1:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	XP_011522132.1:p.Ile228=
XR_934021.1:n.790_831delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
XR_934022.1:n.790_831delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
XR_934023.1:n.790_831delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
XM_006721516.3:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	XP_006721579.2:p.Ile228=
XM_011523829.2:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	XP_011522131.1:p.Ile228=
XM_011523830.2:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	XP_011522132.1:p.Ile228=
XM_024450741.1:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	XP_024306509.1:p.Ile228=
XR_934021.2:n.742_783delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
XR_934022.2:n.742_783delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
XR_934023.2:n.742_783delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA
NM_000018.4:c.683_724delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA MANE Select	NP_000009.1:p.Ile228=
NM_001033859.3:c.617_658delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	NP_001029031.1:p.Ile206=
NM_001270447.2:c.752_793delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	NP_001257376.1:p.Ile251=
NM_001270448.2:c.455_496delinsTCCGAACCTCTGCTGTGCCCAGCCCCTGTGGAAAATACTATA	NP_001257377.1:p.Ile152=