Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221411_7221445delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT , CM000679.2:g.7221411_7221445delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	GRCh38
NC_000017.10:g.7124730_7124764delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT , CM000679.1:g.7124730_7124764delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	GRCh37
NC_000017.9:g.7065454_7065488delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	NCBI36
NG_007975.1:g.6578_6612delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
NG_008391.2:g.3606_3640delinsAGGGCAGTTCCTGACCTAGGGCAGTGCCTGACCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT MANE Select	ENSP00000349297.5:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGG...
ENST00000322910.9:c.433-127_433-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	ENSP00000325395.5:n.433-127_433-93delinsCAGGTCAGGCACTGCCCTA...
ENST00000350303.9:c.412-127_412-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	ENSP00000344152.5:n.412-127_412-93delinsCAGGTCAGGCACTGCCCTAGG...
ENST00000356839.9:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	ENSP00000349297.5:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGG...
ENST00000543245.6:c.547-127_547-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	ENSP00000438689.2:n.547-127_547-93delinsCAGGTCAGGCACTGCCCTAGG...
ENST00000577191.5:n.555-127_555-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
ENST00000577433.5:n.686-127_686-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
ENST00000577857.5:n.294-127_294-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
ENST00000579286.5:n.659-127_659-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
ENST00000579886.2:c.316-127_316-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	ENSP00000463246.1:n.316-127_316-93delinsCAGGTCAGGCACTGCCCTAGG...
ENST00000580365.1:n.209-127_209-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
ENST00000581378.5:c.177-108_177-74delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
ENST00000581562.5:n.524+353_524+387delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
ENST00000582166.1:n.459-127_459-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
ENST00000583312.5:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	ENSP00000467920.1:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGG...
ENST00000583760.1:n.133_167delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
NM_000018.3:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	NP_000009.1:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGA...
NM_001033859.2:c.412-127_412-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	NP_001029031.1:n.412-127_412-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
NM_001270447.1:c.547-127_547-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	NP_001257376.1:n.547-127_547-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
NM_001270448.1:c.250-127_250-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	NP_001257377.1:n.250-127_250-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
XM_006721516.2:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	XP_006721579.2:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
XM_011523829.1:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	XP_011522131.1:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
XM_011523830.1:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	XP_011522132.1:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
XR_934021.1:n.585-127_585-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
XR_934022.1:n.585-127_585-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
XR_934023.1:n.585-127_585-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
XM_006721516.3:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	XP_006721579.2:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
XM_011523829.2:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	XP_011522131.1:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
XM_011523830.2:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	XP_011522132.1:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
XM_024450741.1:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	XP_024306509.1:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
XR_934021.2:n.537-127_537-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
XR_934022.2:n.537-127_537-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
XR_934023.2:n.537-127_537-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT
NM_000018.4:c.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT MANE Select	NP_000009.1:n.478-127_478-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGA...
NM_001033859.3:c.412-127_412-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	NP_001029031.1:n.412-127_412-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
NM_001270447.2:c.547-127_547-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	NP_001257376.1:n.547-127_547-93delinsCAGGTCAGGCACTGCCCTAGGTCA...
NM_001270448.2:c.250-127_250-93delinsCAGGTCAGGCACTGCCCTAGGTCAGGAACTGCCCT	NP_001257377.1:n.250-127_250-93delinsCAGGTCAGGCACTGCCCTAGGTCA...