Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224447_7224449delinsCCT , CM000679.2:g.7224447_7224449delinsCCT	GRCh38
NC_000017.10:g.7127766_7127768delinsCCT , CM000679.1:g.7127766_7127768delinsCCT	GRCh37
NC_000017.9:g.7068490_7068492delinsCCT	NCBI36
NG_007975.1:g.9614_9616delinsCCT
NG_008391.2:g.602_604delinsAGG
NG_033038.1:g.15096_15098delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1606-33_1606-31delinsCCT MANE Select	ENSP00000349297.5:n.1606-33_1606-31delinsCCT
ENST00000322910.9:c.1561-33_1561-31delinsCCT	ENSP00000325395.5:n.1561-33_1561-31delinsCCT
ENST00000350303.9:c.1540-33_1540-31delinsCCT	ENSP00000344152.5:n.1540-33_1540-31delinsCCT
ENST00000356839.9:c.1606-33_1606-31delinsCCT	ENSP00000349297.5:n.1606-33_1606-31delinsCCT
ENST00000542255.6:c.464-33_464-31delinsCCT
ENST00000543245.6:c.1675-33_1675-31delinsCCT	ENSP00000438689.2:n.1675-33_1675-31delinsCCT
ENST00000578319.5:n.154_156delinsCCT
ENST00000578711.1:n.943_945delinsCCT
ENST00000578809.5:n.178-33_178-31delinsCCT
ENST00000579391.1:n.214-37_214-35delinsCCT
ENST00000579425.5:n.722-33_722-31delinsCCT
ENST00000579546.1:c.345-37_345-35delinsCCT
ENST00000579894.5:n.393-33_393-31delinsCCT
ENST00000582450.1:n.114-33_114-31delinsCCT
ENST00000583074.5:n.227-33_227-31delinsCCT
ENST00000583850.5:n.381-37_381-35delinsCCT
ENST00000583858.5:c.537-33_537-31delinsCCT
ENST00000585203.6:n.797-33_797-31delinsCCT
NM_000018.3:c.1606-33_1606-31delinsCCT	NP_000009.1:n.1606-33_1606-31delinsCCT
NM_001033859.2:c.1540-33_1540-31delinsCCT	NP_001029031.1:n.1540-33_1540-31delinsCCT
NM_001270447.1:c.1675-33_1675-31delinsCCT	NP_001257376.1:n.1675-33_1675-31delinsCCT
NM_001270448.1:c.1378-33_1378-31delinsCCT	NP_001257377.1:n.1378-33_1378-31delinsCCT
XM_006721516.2:c.1606-33_1606-31delinsCCT	XP_006721579.2:n.1606-33_1606-31delinsCCT
XM_011523829.1:c.1508-37_1508-35delinsCCT	XP_011522131.1:n.1508-37_1508-35delinsCCT
XM_011523830.1:c.1508-37_1508-35delinsCCT	XP_011522132.1:n.1508-37_1508-35delinsCCT
XR_934021.1:n.1713-37_1713-35delinsCCT
XR_934022.1:n.1615-33_1615-31delinsCCT
XR_934023.1:n.1615-33_1615-31delinsCCT
XM_006721516.3:c.1606-33_1606-31delinsCCT	XP_006721579.2:n.1606-33_1606-31delinsCCT
XM_011523829.2:c.1508-37_1508-35delinsCCT	XP_011522131.1:n.1508-37_1508-35delinsCCT
XM_011523830.2:c.1508-37_1508-35delinsCCT	XP_011522132.1:n.1508-37_1508-35delinsCCT
XM_024450741.1:c.1561_1563delinsCCT	XP_024306509.1:p.Pro521=
XR_934021.2:n.1665-37_1665-35delinsCCT
XR_934022.2:n.1567-33_1567-31delinsCCT
XR_934023.2:n.1567-33_1567-31delinsCCT
NM_000018.4:c.1606-33_1606-31delinsCCT MANE Select	NP_000009.1:n.1606-33_1606-31delinsCCT
NM_001033859.3:c.1540-33_1540-31delinsCCT	NP_001029031.1:n.1540-33_1540-31delinsCCT
NM_001270447.2:c.1675-33_1675-31delinsCCT	NP_001257376.1:n.1675-33_1675-31delinsCCT
NM_001270448.2:c.1378-33_1378-31delinsCCT	NP_001257377.1:n.1378-33_1378-31delinsCCT