Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224065_7224067delinsGTA , CM000679.2:g.7224065_7224067delinsGTA	GRCh38
NC_000017.10:g.7127384_7127386delinsGTA , CM000679.1:g.7127384_7127386delinsGTA	GRCh37
NC_000017.9:g.7068108_7068110delinsGTA	NCBI36
NG_007975.1:g.9232_9234delinsGTA
NG_008391.2:g.984_986delinsTAC
NG_033038.1:g.15478_15480delinsTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1430_1432delinsGTA MANE Select	ENSP00000349297.5:p.Cys477=
ENST00000322910.9:c.1385_1387delinsGTA	ENSP00000325395.5:n.1385_1387delinsGTA
ENST00000350303.9:c.1364_1366delinsGTA	ENSP00000344152.5:p.Cys455=
ENST00000356839.9:c.1430_1432delinsGTA	ENSP00000349297.5:p.Cys477=
ENST00000542255.6:c.288_290delinsGTA
ENST00000543245.6:c.1499_1501delinsGTA	ENSP00000438689.2:p.Cys500=
ENST00000578711.1:n.561_563delinsGTA
ENST00000579425.5:n.546_548delinsGTA
ENST00000579546.1:c.267_269delinsGTA
ENST00000579894.5:n.141_143delinsGTA
ENST00000583074.5:n.149_151delinsGTA
ENST00000583850.5:n.205_207delinsGTA
ENST00000583858.5:c.459_461delinsGTA
ENST00000585203.6:n.621_623delinsGTA
NM_000018.3:c.1430_1432delinsGTA	NP_000009.1:p.Cys477=
NM_001033859.2:c.1364_1366delinsGTA	NP_001029031.1:p.Cys455=
NM_001270447.1:c.1499_1501delinsGTA	NP_001257376.1:p.Cys500=
NM_001270448.1:c.1202_1204delinsGTA	NP_001257377.1:p.Cys401=
XM_006721516.2:c.1430_1432delinsGTA	XP_006721579.2:p.Cys477=
XM_011523829.1:c.1430_1432delinsGTA	XP_011522131.1:p.Cys477=
XM_011523830.1:c.1430_1432delinsGTA	XP_011522132.1:p.Cys477=
XR_934021.1:n.1537_1539delinsGTA
XR_934022.1:n.1537_1539delinsGTA
XR_934023.1:n.1537_1539delinsGTA
XM_006721516.3:c.1430_1432delinsGTA	XP_006721579.2:p.Cys477=
XM_011523829.2:c.1430_1432delinsGTA	XP_011522131.1:p.Cys477=
XM_011523830.2:c.1430_1432delinsGTA	XP_011522132.1:p.Cys477=
XM_024450741.1:c.1430_1432delinsGTA	XP_024306509.1:p.Cys477=
XR_934021.2:n.1489_1491delinsGTA
XR_934022.2:n.1489_1491delinsGTA
XR_934023.2:n.1489_1491delinsGTA
NM_000018.4:c.1430_1432delinsGTA MANE Select	NP_000009.1:p.Cys477=
NM_001033859.3:c.1364_1366delinsGTA	NP_001029031.1:p.Cys455=
NM_001270447.2:c.1499_1501delinsGTA	NP_001257376.1:p.Cys500=
NM_001270448.2:c.1202_1204delinsGTA	NP_001257377.1:p.Cys401=