Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221416_7221449delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT , CM000679.2:g.7221416_7221449delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	GRCh38
NC_000017.10:g.7124735_7124768delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT , CM000679.1:g.7124735_7124768delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	GRCh37
NC_000017.9:g.7065459_7065492delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	NCBI36
NG_007975.1:g.6583_6616delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
NG_008391.2:g.3602_3635delinsACCTAGGGCAGTTCCTGACCTAGGGCAGTGCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT MANE Select	ENSP00000349297.5:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGG...
ENST00000322910.9:c.433-122_433-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	ENSP00000325395.5:n.433-122_433-89delinsCAGGCACTGCCCTAGGTCA...
ENST00000350303.9:c.412-122_412-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	ENSP00000344152.5:n.412-122_412-89delinsCAGGCACTGCCCTAGGTCAGG...
ENST00000356839.9:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	ENSP00000349297.5:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGG...
ENST00000543245.6:c.547-122_547-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	ENSP00000438689.2:n.547-122_547-89delinsCAGGCACTGCCCTAGGTCAGG...
ENST00000577191.5:n.555-122_555-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
ENST00000577433.5:n.686-122_686-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
ENST00000577857.5:n.294-122_294-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
ENST00000579286.5:n.659-122_659-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
ENST00000579886.2:c.316-122_316-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	ENSP00000463246.1:n.316-122_316-89delinsCAGGCACTGCCCTAGGTCAGG...
ENST00000580365.1:n.209-122_209-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
ENST00000581378.5:c.177-103_177-70delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
ENST00000581562.5:n.524+358_524+391delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
ENST00000582166.1:n.459-122_459-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
ENST00000583312.5:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	ENSP00000467920.1:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGG...
ENST00000583760.1:n.138_171delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
NM_000018.3:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	NP_000009.1:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGC...
NM_001033859.2:c.412-122_412-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	NP_001029031.1:n.412-122_412-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
NM_001270447.1:c.547-122_547-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	NP_001257376.1:n.547-122_547-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
NM_001270448.1:c.250-122_250-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	NP_001257377.1:n.250-122_250-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
XM_006721516.2:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	XP_006721579.2:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
XM_011523829.1:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	XP_011522131.1:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
XM_011523830.1:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	XP_011522132.1:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
XR_934021.1:n.585-122_585-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
XR_934022.1:n.585-122_585-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
XR_934023.1:n.585-122_585-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
XM_006721516.3:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	XP_006721579.2:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
XM_011523829.2:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	XP_011522131.1:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
XM_011523830.2:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	XP_011522132.1:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
XM_024450741.1:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	XP_024306509.1:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
XR_934021.2:n.537-122_537-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
XR_934022.2:n.537-122_537-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
XR_934023.2:n.537-122_537-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT
NM_000018.4:c.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT MANE Select	NP_000009.1:n.478-122_478-89delinsCAGGCACTGCCCTAGGTCAGGAACTGC...
NM_001033859.3:c.412-122_412-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	NP_001029031.1:n.412-122_412-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
NM_001270447.2:c.547-122_547-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	NP_001257376.1:n.547-122_547-89delinsCAGGCACTGCCCTAGGTCAGGAAC...
NM_001270448.2:c.250-122_250-89delinsCAGGCACTGCCCTAGGTCAGGAACTGCCCTAGGT	NP_001257377.1:n.250-122_250-89delinsCAGGCACTGCCCTAGGTCAGGAAC...