Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221473_7221474delinsCT , CM000679.2:g.7221473_7221474delinsCT	GRCh38
NC_000017.10:g.7124792_7124793delinsCT , CM000679.1:g.7124792_7124793delinsCT	GRCh37
NC_000017.9:g.7065516_7065517delinsCT	NCBI36
NG_007975.1:g.6640_6641delinsCT
NG_008391.2:g.3577_3578delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-65_478-64delinsCT MANE Select	ENSP00000349297.5:n.478-65_478-64delinsCT
ENST00000322910.9:c.433-65_433-64delinsCT	ENSP00000325395.5:n.433-65_433-64delinsCT
ENST00000350303.9:c.412-65_412-64delinsCT	ENSP00000344152.5:n.412-65_412-64delinsCT
ENST00000356839.9:c.478-65_478-64delinsCT	ENSP00000349297.5:n.478-65_478-64delinsCT
ENST00000543245.6:c.547-65_547-64delinsCT	ENSP00000438689.2:n.547-65_547-64delinsCT
ENST00000577191.5:n.555-65_555-64delinsCT
ENST00000577433.5:n.686-65_686-64delinsCT
ENST00000577857.5:n.294-65_294-64delinsCT
ENST00000579286.5:n.659-65_659-64delinsCT
ENST00000579886.2:c.316-65_316-64delinsCT	ENSP00000463246.1:n.316-65_316-64delinsCT
ENST00000580365.1:n.209-65_209-64delinsCT
ENST00000581378.5:c.177-46_177-45delinsCT
ENST00000581562.5:n.524+415_524+416delinsCT
ENST00000582166.1:n.459-65_459-64delinsCT
ENST00000583312.5:c.478-65_478-64delinsCT	ENSP00000467920.1:n.478-65_478-64delinsCT
ENST00000583760.1:n.195_196delinsCT
NM_000018.3:c.478-65_478-64delinsCT	NP_000009.1:n.478-65_478-64delinsCT
NM_001033859.2:c.412-65_412-64delinsCT	NP_001029031.1:n.412-65_412-64delinsCT
NM_001270447.1:c.547-65_547-64delinsCT	NP_001257376.1:n.547-65_547-64delinsCT
NM_001270448.1:c.250-65_250-64delinsCT	NP_001257377.1:n.250-65_250-64delinsCT
XM_006721516.2:c.478-65_478-64delinsCT	XP_006721579.2:n.478-65_478-64delinsCT
XM_011523829.1:c.478-65_478-64delinsCT	XP_011522131.1:n.478-65_478-64delinsCT
XM_011523830.1:c.478-65_478-64delinsCT	XP_011522132.1:n.478-65_478-64delinsCT
XR_934021.1:n.585-65_585-64delinsCT
XR_934022.1:n.585-65_585-64delinsCT
XR_934023.1:n.585-65_585-64delinsCT
XM_006721516.3:c.478-65_478-64delinsCT	XP_006721579.2:n.478-65_478-64delinsCT
XM_011523829.2:c.478-65_478-64delinsCT	XP_011522131.1:n.478-65_478-64delinsCT
XM_011523830.2:c.478-65_478-64delinsCT	XP_011522132.1:n.478-65_478-64delinsCT
XM_024450741.1:c.478-65_478-64delinsCT	XP_024306509.1:n.478-65_478-64delinsCT
XR_934021.2:n.537-65_537-64delinsCT
XR_934022.2:n.537-65_537-64delinsCT
XR_934023.2:n.537-65_537-64delinsCT
NM_000018.4:c.478-65_478-64delinsCT MANE Select	NP_000009.1:n.478-65_478-64delinsCT
NM_001033859.3:c.412-65_412-64delinsCT	NP_001029031.1:n.412-65_412-64delinsCT
NM_001270447.2:c.547-65_547-64delinsCT	NP_001257376.1:n.547-65_547-64delinsCT
NM_001270448.2:c.250-65_250-64delinsCT	NP_001257377.1:n.250-65_250-64delinsCT