Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221431_7221443delinsGTCAGGAACTGCC , CM000679.2:g.7221431_7221443delinsGTCAGGAACTGCC	GRCh38
NC_000017.10:g.7124750_7124762delinsGTCAGGAACTGCC , CM000679.1:g.7124750_7124762delinsGTCAGGAACTGCC	GRCh37
NC_000017.9:g.7065474_7065486delinsGTCAGGAACTGCC	NCBI36
NG_007975.1:g.6598_6610delinsGTCAGGAACTGCC
NG_008391.2:g.3608_3620delinsGGCAGTTCCTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-107_478-95delinsGTCAGGAACTGCC MANE Select	ENSP00000349297.5:n.478-107_478-95delinsGTCAGGAACTGCC
ENST00000322910.9:c.433-107_433-95delinsGTCAGGAACTGCC	ENSP00000325395.5:n.433-107_433-95delinsGTCAGGAACTGCC
ENST00000350303.9:c.412-107_412-95delinsGTCAGGAACTGCC	ENSP00000344152.5:n.412-107_412-95delinsGTCAGGAACTGCC
ENST00000356839.9:c.478-107_478-95delinsGTCAGGAACTGCC	ENSP00000349297.5:n.478-107_478-95delinsGTCAGGAACTGCC
ENST00000543245.6:c.547-107_547-95delinsGTCAGGAACTGCC	ENSP00000438689.2:n.547-107_547-95delinsGTCAGGAACTGCC
ENST00000577191.5:n.555-107_555-95delinsGTCAGGAACTGCC
ENST00000577433.5:n.686-107_686-95delinsGTCAGGAACTGCC
ENST00000577857.5:n.294-107_294-95delinsGTCAGGAACTGCC
ENST00000579286.5:n.659-107_659-95delinsGTCAGGAACTGCC
ENST00000579886.2:c.316-107_316-95delinsGTCAGGAACTGCC	ENSP00000463246.1:n.316-107_316-95delinsGTCAGGAACTGCC
ENST00000580365.1:n.209-107_209-95delinsGTCAGGAACTGCC
ENST00000581378.5:c.177-88_177-76delinsGTCAGGAACTGCC
ENST00000581562.5:n.524+373_524+385delinsGTCAGGAACTGCC
ENST00000582166.1:n.459-107_459-95delinsGTCAGGAACTGCC
ENST00000583312.5:c.478-107_478-95delinsGTCAGGAACTGCC	ENSP00000467920.1:n.478-107_478-95delinsGTCAGGAACTGCC
ENST00000583760.1:n.153_165delinsGTCAGGAACTGCC
NM_000018.3:c.478-107_478-95delinsGTCAGGAACTGCC	NP_000009.1:n.478-107_478-95delinsGTCAGGAACTGCC
NM_001033859.2:c.412-107_412-95delinsGTCAGGAACTGCC	NP_001029031.1:n.412-107_412-95delinsGTCAGGAACTGCC
NM_001270447.1:c.547-107_547-95delinsGTCAGGAACTGCC	NP_001257376.1:n.547-107_547-95delinsGTCAGGAACTGCC
NM_001270448.1:c.250-107_250-95delinsGTCAGGAACTGCC	NP_001257377.1:n.250-107_250-95delinsGTCAGGAACTGCC
XM_006721516.2:c.478-107_478-95delinsGTCAGGAACTGCC	XP_006721579.2:n.478-107_478-95delinsGTCAGGAACTGCC
XM_011523829.1:c.478-107_478-95delinsGTCAGGAACTGCC	XP_011522131.1:n.478-107_478-95delinsGTCAGGAACTGCC
XM_011523830.1:c.478-107_478-95delinsGTCAGGAACTGCC	XP_011522132.1:n.478-107_478-95delinsGTCAGGAACTGCC
XR_934021.1:n.585-107_585-95delinsGTCAGGAACTGCC
XR_934022.1:n.585-107_585-95delinsGTCAGGAACTGCC
XR_934023.1:n.585-107_585-95delinsGTCAGGAACTGCC
XM_006721516.3:c.478-107_478-95delinsGTCAGGAACTGCC	XP_006721579.2:n.478-107_478-95delinsGTCAGGAACTGCC
XM_011523829.2:c.478-107_478-95delinsGTCAGGAACTGCC	XP_011522131.1:n.478-107_478-95delinsGTCAGGAACTGCC
XM_011523830.2:c.478-107_478-95delinsGTCAGGAACTGCC	XP_011522132.1:n.478-107_478-95delinsGTCAGGAACTGCC
XM_024450741.1:c.478-107_478-95delinsGTCAGGAACTGCC	XP_024306509.1:n.478-107_478-95delinsGTCAGGAACTGCC
XR_934021.2:n.537-107_537-95delinsGTCAGGAACTGCC
XR_934022.2:n.537-107_537-95delinsGTCAGGAACTGCC
XR_934023.2:n.537-107_537-95delinsGTCAGGAACTGCC
NM_000018.4:c.478-107_478-95delinsGTCAGGAACTGCC MANE Select	NP_000009.1:n.478-107_478-95delinsGTCAGGAACTGCC
NM_001033859.3:c.412-107_412-95delinsGTCAGGAACTGCC	NP_001029031.1:n.412-107_412-95delinsGTCAGGAACTGCC
NM_001270447.2:c.547-107_547-95delinsGTCAGGAACTGCC	NP_001257376.1:n.547-107_547-95delinsGTCAGGAACTGCC
NM_001270448.2:c.250-107_250-95delinsGTCAGGAACTGCC	NP_001257377.1:n.250-107_250-95delinsGTCAGGAACTGCC