Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222220_7222221insACCCAAACACACCCAACA , CM000679.2:g.7222220_7222221insACCCAAACACACCCAACA	GRCh38
NC_000017.10:g.7125539_7125540insACCCAAACACACCCAACA , CM000679.1:g.7125539_7125540insACCCAAACACACCCAACA	GRCh37
NC_000017.9:g.7066263_7066264insACCCAAACACACCCAACA	NCBI36
NG_007975.1:g.7387_7388insACCCAAACACACCCAACA
NG_008391.2:g.2830_2831insTGTTGGGTGTGTTTGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.796_797insACCCAAACACACCCAACA MANE Select	ENSP00000349297.5:p.Pro266delinsHisProAsnThrProAsnThr
ENST00000322910.9:c.751_752insACCCAAACACACCCAACA	ENSP00000325395.5:n.751_752insACCCAAACACACCCAACA
ENST00000350303.9:c.730_731insACCCAAACACACCCAACA	ENSP00000344152.5:p.Pro244delinsHisProAsnThrProAsnThr
ENST00000356839.9:c.796_797insACCCAAACACACCCAACA	ENSP00000349297.5:p.Pro266delinsHisProAsnThrProAsnThr
ENST00000543245.6:c.865_866insACCCAAACACACCCAACA	ENSP00000438689.2:p.Pro289delinsHisProAsnThrProAsnThr
ENST00000577191.5:n.968_969insACCCAAACACACCCAACA
ENST00000581378.5:c.514_515insACCCAAACACACCCAACA
ENST00000582379.1:n.180_181insACCCAAACACACCCAACA
NM_000018.3:c.796_797insACCCAAACACACCCAACA	NP_000009.1:p.Pro266delinsHisProAsnThrProAsnThr
NM_001033859.2:c.730_731insACCCAAACACACCCAACA	NP_001029031.1:p.Pro244delinsHisProAsnThrProAsnThr
NM_001270447.1:c.865_866insACCCAAACACACCCAACA	NP_001257376.1:p.Pro289delinsHisProAsnThrProAsnThr
NM_001270448.1:c.568_569insACCCAAACACACCCAACA	NP_001257377.1:p.Pro190delinsHisProAsnThrProAsnThr
XM_006721516.2:c.796_797insACCCAAACACACCCAACA	XP_006721579.2:p.Pro266delinsHisProAsnThrProAsnThr
XM_011523829.1:c.796_797insACCCAAACACACCCAACA	XP_011522131.1:p.Pro266delinsHisProAsnThrProAsnThr
XM_011523830.1:c.796_797insACCCAAACACACCCAACA	XP_011522132.1:p.Pro266delinsHisProAsnThrProAsnThr
XR_934021.1:n.903_904insACCCAAACACACCCAACA
XR_934022.1:n.903_904insACCCAAACACACCCAACA
XR_934023.1:n.903_904insACCCAAACACACCCAACA
XM_006721516.3:c.796_797insACCCAAACACACCCAACA	XP_006721579.2:p.Pro266delinsHisProAsnThrProAsnThr
XM_011523829.2:c.796_797insACCCAAACACACCCAACA	XP_011522131.1:p.Pro266delinsHisProAsnThrProAsnThr
XM_011523830.2:c.796_797insACCCAAACACACCCAACA	XP_011522132.1:p.Pro266delinsHisProAsnThrProAsnThr
XM_024450741.1:c.796_797insACCCAAACACACCCAACA	XP_024306509.1:p.Pro266delinsHisProAsnThrProAsnThr
XR_934021.2:n.855_856insACCCAAACACACCCAACA
XR_934022.2:n.855_856insACCCAAACACACCCAACA
XR_934023.2:n.855_856insACCCAAACACACCCAACA
NM_000018.4:c.796_797insACCCAAACACACCCAACA MANE Select	NP_000009.1:p.Pro266delinsHisProAsnThrProAsnThr
NM_001033859.3:c.730_731insACCCAAACACACCCAACA	NP_001029031.1:p.Pro244delinsHisProAsnThrProAsnThr
NM_001270447.2:c.865_866insACCCAAACACACCCAACA	NP_001257376.1:p.Pro289delinsHisProAsnThrProAsnThr
NM_001270448.2:c.568_569insACCCAAACACACCCAACA	NP_001257377.1:p.Pro190delinsHisProAsnThrProAsnThr