Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222310_7222315del , CM000679.2:g.7222310_7222315del	GRCh38
NC_000017.10:g.7125629_7125634del , CM000679.1:g.7125629_7125634del	GRCh37
NC_000017.9:g.7066353_7066358del	NCBI36
NG_007975.1:g.7477_7482del
NG_008391.2:g.2738_2743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.878+8_878+13del MANE Select	ENSP00000349297.5:n.878+8_878+13del
ENST00000322910.9:c.833+8_833+13del	ENSP00000325395.5:n.833+8_833+13del
ENST00000350303.9:c.812+8_812+13del	ENSP00000344152.5:n.812+8_812+13del
ENST00000356839.9:c.878+8_878+13del	ENSP00000349297.5:n.878+8_878+13del
ENST00000543245.6:c.947+8_947+13del	ENSP00000438689.2:n.947+8_947+13del
ENST00000577191.5:n.1058_1063del
ENST00000581378.5:c.596+8_596+13del
ENST00000582379.1:n.262+8_262+13del
NM_000018.3:c.878+8_878+13del	NP_000009.1:n.878+8_878+13del
NM_001033859.2:c.812+8_812+13del	NP_001029031.1:n.812+8_812+13del
NM_001270447.1:c.947+8_947+13del	NP_001257376.1:n.947+8_947+13del
NM_001270448.1:c.650+8_650+13del	NP_001257377.1:n.650+8_650+13del
XM_006721516.2:c.878+8_878+13del	XP_006721579.2:n.878+8_878+13del
XM_011523829.1:c.878+8_878+13del	XP_011522131.1:n.878+8_878+13del
XM_011523830.1:c.878+8_878+13del	XP_011522132.1:n.878+8_878+13del
XR_934021.1:n.985+8_985+13del
XR_934022.1:n.985+8_985+13del
XR_934023.1:n.985+8_985+13del
XM_006721516.3:c.878+8_878+13del	XP_006721579.2:n.878+8_878+13del
XM_011523829.2:c.878+8_878+13del	XP_011522131.1:n.878+8_878+13del
XM_011523830.2:c.878+8_878+13del	XP_011522132.1:n.878+8_878+13del
XM_024450741.1:c.878+8_878+13del	XP_024306509.1:n.878+8_878+13del
XR_934021.2:n.937+8_937+13del
XR_934022.2:n.937+8_937+13del
XR_934023.2:n.937+8_937+13del
NM_000018.4:c.878+8_878+13del MANE Select	NP_000009.1:n.878+8_878+13del
NM_001033859.3:c.812+8_812+13del	NP_001029031.1:n.812+8_812+13del
NM_001270447.2:c.947+8_947+13del	NP_001257376.1:n.947+8_947+13del
NM_001270448.2:c.650+8_650+13del	NP_001257377.1:n.650+8_650+13del