Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224333_7224334delinsC , CM000679.2:g.7224333_7224334delinsC	GRCh38
NC_000017.10:g.7127652_7127653delinsC , CM000679.1:g.7127652_7127653delinsC	GRCh37
NC_000017.9:g.7068376_7068377delinsC	NCBI36
NG_007975.1:g.9500_9501delinsC
NG_008391.2:g.717_718delinsG
NG_033038.1:g.15211_15212delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1545_1546delinsC MANE Select	ENSP00000349297.5:p.Gly516AlafsTer4
ENST00000322910.9:c.1500_1501delinsC	ENSP00000325395.5:n.1500_1501delinsC
ENST00000350303.9:c.1479_1480delinsC	ENSP00000344152.5:p.Gly494AlafsTer4
ENST00000356839.9:c.1545_1546delinsC	ENSP00000349297.5:p.Gly516AlafsTer4
ENST00000542255.6:c.403_404delinsC
ENST00000543245.6:c.1614_1615delinsC	ENSP00000438689.2:p.Gly539AlafsTer4
ENST00000578319.5:n.40_41delinsC
ENST00000578711.1:n.829_830delinsC
ENST00000578809.5:n.117_118delinsC
ENST00000579391.1:n.153_154delinsC
ENST00000579425.5:n.661_662delinsC
ENST00000579546.1:c.284_285delinsC
ENST00000579894.5:n.332_333delinsC
ENST00000582450.1:n.53_54delinsC
ENST00000583074.5:n.166_167delinsC
ENST00000583850.5:n.320_321delinsC
ENST00000583858.5:c.476_477delinsC
ENST00000585203.6:n.736_737delinsC
NM_000018.3:c.1545_1546delinsC	NP_000009.1:p.Gly516AlafsTer4
NM_001033859.2:c.1479_1480delinsC	NP_001029031.1:p.Gly494AlafsTer4
NM_001270447.1:c.1614_1615delinsC	NP_001257376.1:p.Gly539AlafsTer4
NM_001270448.1:c.1317_1318delinsC	NP_001257377.1:p.Gly440AlafsTer4
XM_006721516.2:c.1545_1546delinsC	XP_006721579.2:p.Gly516AlafsTer4
XM_011523829.1:c.1447_1448delinsC	XP_011522131.1:p.Gly483ArgfsTer?
XM_011523830.1:c.1447_1448delinsC	XP_011522132.1:p.Gly483ArgfsTer?
XR_934021.1:n.1652_1653delinsC
XR_934022.1:n.1554_1555delinsC
XR_934023.1:n.1554_1555delinsC
XM_006721516.3:c.1545_1546delinsC	XP_006721579.2:p.Gly516AlafsTer4
XM_011523829.2:c.1447_1448delinsC	XP_011522131.1:p.Gly483ArgfsTer?
XM_011523830.2:c.1447_1448delinsC	XP_011522132.1:p.Gly483ArgfsTer?
XM_024450741.1:c.1447_1448delinsC	XP_024306509.1:p.Gly483ArgfsTer?
XR_934021.2:n.1604_1605delinsC
XR_934022.2:n.1506_1507delinsC
XR_934023.2:n.1506_1507delinsC
NM_000018.4:c.1545_1546delinsC MANE Select	NP_000009.1:p.Gly516AlafsTer4
NM_001033859.3:c.1479_1480delinsC	NP_001029031.1:p.Gly494AlafsTer4
NM_001270447.2:c.1614_1615delinsC	NP_001257376.1:p.Gly539AlafsTer4
NM_001270448.2:c.1317_1318delinsC	NP_001257377.1:p.Gly440AlafsTer4