Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221381_7221386delinsCCACTT , CM000679.2:g.7221381_7221386delinsCCACTT	GRCh38
NC_000017.10:g.7124700_7124705delinsCCACTT , CM000679.1:g.7124700_7124705delinsCCACTT	GRCh37
NC_000017.9:g.7065424_7065429delinsCCACTT	NCBI36
NG_007975.1:g.6548_6553delinsCCACTT
NG_008391.2:g.3665_3670delinsAAGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-157_478-152delinsCCACTT MANE Select	ENSP00000349297.5:n.478-157_478-152delinsCCACTT
ENST00000322910.9:c.433-157_433-152delinsCCACTT	ENSP00000325395.5:n.433-157_433-152delinsCCACTT
ENST00000350303.9:c.412-157_412-152delinsCCACTT	ENSP00000344152.5:n.412-157_412-152delinsCCACTT
ENST00000356839.9:c.478-157_478-152delinsCCACTT	ENSP00000349297.5:n.478-157_478-152delinsCCACTT
ENST00000543245.6:c.547-157_547-152delinsCCACTT	ENSP00000438689.2:n.547-157_547-152delinsCCACTT
ENST00000577191.5:n.555-157_555-152delinsCCACTT
ENST00000577433.5:n.686-157_686-152delinsCCACTT
ENST00000577857.5:n.294-157_294-152delinsCCACTT
ENST00000579286.5:n.659-157_659-152delinsCCACTT
ENST00000579886.2:c.316-157_316-152delinsCCACTT	ENSP00000463246.1:n.316-157_316-152delinsCCACTT
ENST00000580365.1:n.209-157_209-152delinsCCACTT
ENST00000581378.5:c.177-138_177-133delinsCCACTT
ENST00000581562.5:n.524+323_524+328delinsCCACTT
ENST00000582166.1:n.459-157_459-152delinsCCACTT
ENST00000583312.5:c.478-157_478-152delinsCCACTT	ENSP00000467920.1:n.478-157_478-152delinsCCACTT
ENST00000583760.1:n.103_108delinsCCACTT
NM_000018.3:c.478-157_478-152delinsCCACTT	NP_000009.1:n.478-157_478-152delinsCCACTT
NM_001033859.2:c.412-157_412-152delinsCCACTT	NP_001029031.1:n.412-157_412-152delinsCCACTT
NM_001270447.1:c.547-157_547-152delinsCCACTT	NP_001257376.1:n.547-157_547-152delinsCCACTT
NM_001270448.1:c.250-157_250-152delinsCCACTT	NP_001257377.1:n.250-157_250-152delinsCCACTT
XM_006721516.2:c.478-157_478-152delinsCCACTT	XP_006721579.2:n.478-157_478-152delinsCCACTT
XM_011523829.1:c.478-157_478-152delinsCCACTT	XP_011522131.1:n.478-157_478-152delinsCCACTT
XM_011523830.1:c.478-157_478-152delinsCCACTT	XP_011522132.1:n.478-157_478-152delinsCCACTT
XR_934021.1:n.585-157_585-152delinsCCACTT
XR_934022.1:n.585-157_585-152delinsCCACTT
XR_934023.1:n.585-157_585-152delinsCCACTT
XM_006721516.3:c.478-157_478-152delinsCCACTT	XP_006721579.2:n.478-157_478-152delinsCCACTT
XM_011523829.2:c.478-157_478-152delinsCCACTT	XP_011522131.1:n.478-157_478-152delinsCCACTT
XM_011523830.2:c.478-157_478-152delinsCCACTT	XP_011522132.1:n.478-157_478-152delinsCCACTT
XM_024450741.1:c.478-157_478-152delinsCCACTT	XP_024306509.1:n.478-157_478-152delinsCCACTT
XR_934021.2:n.537-157_537-152delinsCCACTT
XR_934022.2:n.537-157_537-152delinsCCACTT
XR_934023.2:n.537-157_537-152delinsCCACTT
NM_000018.4:c.478-157_478-152delinsCCACTT MANE Select	NP_000009.1:n.478-157_478-152delinsCCACTT
NM_001033859.3:c.412-157_412-152delinsCCACTT	NP_001029031.1:n.412-157_412-152delinsCCACTT
NM_001270447.2:c.547-157_547-152delinsCCACTT	NP_001257376.1:n.547-157_547-152delinsCCACTT
NM_001270448.2:c.250-157_250-152delinsCCACTT	NP_001257377.1:n.250-157_250-152delinsCCACTT