Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224312_7224313delinsTC , CM000679.2:g.7224312_7224313delinsTC	GRCh38
NC_000017.10:g.7127631_7127632delinsTC , CM000679.1:g.7127631_7127632delinsTC	GRCh37
NC_000017.9:g.7068355_7068356delinsTC	NCBI36
NG_007975.1:g.9479_9480delinsTC
NG_008391.2:g.738_739delinsGA
NG_033038.1:g.15232_15233delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1533-9_1533-8delinsTC MANE Select	ENSP00000349297.5:n.1533-9_1533-8delinsTC
ENST00000322910.9:c.1488-9_1488-8delinsTC	ENSP00000325395.5:n.1488-9_1488-8delinsTC
ENST00000350303.9:c.1467-9_1467-8delinsTC	ENSP00000344152.5:n.1467-9_1467-8delinsTC
ENST00000356839.9:c.1533-9_1533-8delinsTC	ENSP00000349297.5:n.1533-9_1533-8delinsTC
ENST00000542255.6:c.391-9_391-8delinsTC
ENST00000543245.6:c.1602-9_1602-8delinsTC	ENSP00000438689.2:n.1602-9_1602-8delinsTC
ENST00000578319.5:n.28-9_28-8delinsTC
ENST00000578711.1:n.808_809delinsTC
ENST00000578809.5:n.96_97delinsTC
ENST00000579391.1:n.141-9_141-8delinsTC
ENST00000579425.5:n.649-9_649-8delinsTC
ENST00000579546.1:c.272-9_272-8delinsTC
ENST00000579894.5:n.320-9_320-8delinsTC
ENST00000582450.1:n.32_33delinsTC
ENST00000583074.5:n.154-9_154-8delinsTC
ENST00000583850.5:n.308-9_308-8delinsTC
ENST00000583858.5:c.464-9_464-8delinsTC
ENST00000585203.6:n.724-9_724-8delinsTC
NM_000018.3:c.1533-9_1533-8delinsTC	NP_000009.1:n.1533-9_1533-8delinsTC
NM_001033859.2:c.1467-9_1467-8delinsTC	NP_001029031.1:n.1467-9_1467-8delinsTC
NM_001270447.1:c.1602-9_1602-8delinsTC	NP_001257376.1:n.1602-9_1602-8delinsTC
NM_001270448.1:c.1305-9_1305-8delinsTC	NP_001257377.1:n.1305-9_1305-8delinsTC
XM_006721516.2:c.1533-9_1533-8delinsTC	XP_006721579.2:n.1533-9_1533-8delinsTC
XM_011523829.1:c.1435-9_1435-8delinsTC	XP_011522131.1:n.1435-9_1435-8delinsTC
XM_011523830.1:c.1435-9_1435-8delinsTC	XP_011522132.1:n.1435-9_1435-8delinsTC
XR_934021.1:n.1640-9_1640-8delinsTC
XR_934022.1:n.1542-9_1542-8delinsTC
XR_934023.1:n.1542-9_1542-8delinsTC
XM_006721516.3:c.1533-9_1533-8delinsTC	XP_006721579.2:n.1533-9_1533-8delinsTC
XM_011523829.2:c.1435-9_1435-8delinsTC	XP_011522131.1:n.1435-9_1435-8delinsTC
XM_011523830.2:c.1435-9_1435-8delinsTC	XP_011522132.1:n.1435-9_1435-8delinsTC
XM_024450741.1:c.1435-9_1435-8delinsTC	XP_024306509.1:n.1435-9_1435-8delinsTC
XR_934021.2:n.1592-9_1592-8delinsTC
XR_934022.2:n.1494-9_1494-8delinsTC
XR_934023.2:n.1494-9_1494-8delinsTC
NM_000018.4:c.1533-9_1533-8delinsTC MANE Select	NP_000009.1:n.1533-9_1533-8delinsTC
NM_001033859.3:c.1467-9_1467-8delinsTC	NP_001029031.1:n.1467-9_1467-8delinsTC
NM_001270447.2:c.1602-9_1602-8delinsTC	NP_001257376.1:n.1602-9_1602-8delinsTC
NM_001270448.2:c.1305-9_1305-8delinsTC	NP_001257377.1:n.1305-9_1305-8delinsTC