Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222341_7222342insGAGC , CM000679.2:g.7222341_7222342insGAGC	GRCh38
NC_000017.10:g.7125660_7125661insGAGC , CM000679.1:g.7125660_7125661insGAGC	GRCh37
NC_000017.9:g.7066384_7066385insGAGC	NCBI36
NG_007975.1:g.7508_7509insGAGC
NG_008391.2:g.2709_2710insGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.878+39_878+40insGAGC MANE Select	ENSP00000349297.5:n.878+39_878+40insGAGC
ENST00000322910.9:c.833+39_833+40insGAGC	ENSP00000325395.5:n.833+39_833+40insGAGC
ENST00000350303.9:c.812+39_812+40insGAGC	ENSP00000344152.5:n.812+39_812+40insGAGC
ENST00000356839.9:c.878+39_878+40insGAGC	ENSP00000349297.5:n.878+39_878+40insGAGC
ENST00000543245.6:c.947+39_947+40insGAGC	ENSP00000438689.2:n.947+39_947+40insGAGC
ENST00000577191.5:n.1089_1090insGAGC
ENST00000581378.5:c.596+39_596+40insGAGC
ENST00000582379.1:n.262+39_262+40insGAGC
NM_000018.3:c.878+39_878+40insGAGC	NP_000009.1:n.878+39_878+40insGAGC
NM_001033859.2:c.812+39_812+40insGAGC	NP_001029031.1:n.812+39_812+40insGAGC
NM_001270447.1:c.947+39_947+40insGAGC	NP_001257376.1:n.947+39_947+40insGAGC
NM_001270448.1:c.650+39_650+40insGAGC	NP_001257377.1:n.650+39_650+40insGAGC
XM_006721516.2:c.878+39_878+40insGAGC	XP_006721579.2:n.878+39_878+40insGAGC
XM_011523829.1:c.878+39_878+40insGAGC	XP_011522131.1:n.878+39_878+40insGAGC
XM_011523830.1:c.878+39_878+40insGAGC	XP_011522132.1:n.878+39_878+40insGAGC
XR_934021.1:n.985+39_985+40insGAGC
XR_934022.1:n.985+39_985+40insGAGC
XR_934023.1:n.985+39_985+40insGAGC
XM_006721516.3:c.878+39_878+40insGAGC	XP_006721579.2:n.878+39_878+40insGAGC
XM_011523829.2:c.878+39_878+40insGAGC	XP_011522131.1:n.878+39_878+40insGAGC
XM_011523830.2:c.878+39_878+40insGAGC	XP_011522132.1:n.878+39_878+40insGAGC
XM_024450741.1:c.878+39_878+40insGAGC	XP_024306509.1:n.878+39_878+40insGAGC
XR_934021.2:n.937+39_937+40insGAGC
XR_934022.2:n.937+39_937+40insGAGC
XR_934023.2:n.937+39_937+40insGAGC
NM_000018.4:c.878+39_878+40insGAGC MANE Select	NP_000009.1:n.878+39_878+40insGAGC
NM_001033859.3:c.812+39_812+40insGAGC	NP_001029031.1:n.812+39_812+40insGAGC
NM_001270447.2:c.947+39_947+40insGAGC	NP_001257376.1:n.947+39_947+40insGAGC
NM_001270448.2:c.650+39_650+40insGAGC	NP_001257377.1:n.650+39_650+40insGAGC