Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222324_7222327del , CM000679.2:g.7222324_7222327del	GRCh38
NC_000017.10:g.7125643_7125646del , CM000679.1:g.7125643_7125646del	GRCh37
NC_000017.9:g.7066367_7066370del	NCBI36
NG_007975.1:g.7491_7494del
NG_008391.2:g.2724_2727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.878+22_878+25del MANE Select	ENSP00000349297.5:n.878+22_878+25del
ENST00000322910.9:c.833+22_833+25del	ENSP00000325395.5:n.833+22_833+25del
ENST00000350303.9:c.812+22_812+25del	ENSP00000344152.5:n.812+22_812+25del
ENST00000356839.9:c.878+22_878+25del	ENSP00000349297.5:n.878+22_878+25del
ENST00000543245.6:c.947+22_947+25del	ENSP00000438689.2:n.947+22_947+25del
ENST00000577191.5:n.1072_1075del
ENST00000581378.5:c.596+22_596+25del
ENST00000582379.1:n.262+22_262+25del
NM_000018.3:c.878+22_878+25del	NP_000009.1:n.878+22_878+25del
NM_001033859.2:c.812+22_812+25del	NP_001029031.1:n.812+22_812+25del
NM_001270447.1:c.947+22_947+25del	NP_001257376.1:n.947+22_947+25del
NM_001270448.1:c.650+22_650+25del	NP_001257377.1:n.650+22_650+25del
XM_006721516.2:c.878+22_878+25del	XP_006721579.2:n.878+22_878+25del
XM_011523829.1:c.878+22_878+25del	XP_011522131.1:n.878+22_878+25del
XM_011523830.1:c.878+22_878+25del	XP_011522132.1:n.878+22_878+25del
XR_934021.1:n.985+22_985+25del
XR_934022.1:n.985+22_985+25del
XR_934023.1:n.985+22_985+25del
XM_006721516.3:c.878+22_878+25del	XP_006721579.2:n.878+22_878+25del
XM_011523829.2:c.878+22_878+25del	XP_011522131.1:n.878+22_878+25del
XM_011523830.2:c.878+22_878+25del	XP_011522132.1:n.878+22_878+25del
XM_024450741.1:c.878+22_878+25del	XP_024306509.1:n.878+22_878+25del
XR_934021.2:n.937+22_937+25del
XR_934022.2:n.937+22_937+25del
XR_934023.2:n.937+22_937+25del
NM_000018.4:c.878+22_878+25del MANE Select	NP_000009.1:n.878+22_878+25del
NM_001033859.3:c.812+22_812+25del	NP_001029031.1:n.812+22_812+25del
NM_001270447.2:c.947+22_947+25del	NP_001257376.1:n.947+22_947+25del
NM_001270448.2:c.650+22_650+25del	NP_001257377.1:n.650+22_650+25del