Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221430_7221440delinsGGTCAGGAACT , CM000679.2:g.7221430_7221440delinsGGTCAGGAACT	GRCh38
NC_000017.10:g.7124749_7124759delinsGGTCAGGAACT , CM000679.1:g.7124749_7124759delinsGGTCAGGAACT	GRCh37
NC_000017.9:g.7065473_7065483delinsGGTCAGGAACT	NCBI36
NG_007975.1:g.6597_6607delinsGGTCAGGAACT
NG_008391.2:g.3611_3621delinsAGTTCCTGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-108_478-98delinsGGTCAGGAACT MANE Select	ENSP00000349297.5:n.478-108_478-98delinsGGTCAGGAACT
ENST00000322910.9:c.433-108_433-98delinsGGTCAGGAACT	ENSP00000325395.5:n.433-108_433-98delinsGGTCAGGAACT
ENST00000350303.9:c.412-108_412-98delinsGGTCAGGAACT	ENSP00000344152.5:n.412-108_412-98delinsGGTCAGGAACT
ENST00000356839.9:c.478-108_478-98delinsGGTCAGGAACT	ENSP00000349297.5:n.478-108_478-98delinsGGTCAGGAACT
ENST00000543245.6:c.547-108_547-98delinsGGTCAGGAACT	ENSP00000438689.2:n.547-108_547-98delinsGGTCAGGAACT
ENST00000577191.5:n.555-108_555-98delinsGGTCAGGAACT
ENST00000577433.5:n.686-108_686-98delinsGGTCAGGAACT
ENST00000577857.5:n.294-108_294-98delinsGGTCAGGAACT
ENST00000579286.5:n.659-108_659-98delinsGGTCAGGAACT
ENST00000579886.2:c.316-108_316-98delinsGGTCAGGAACT	ENSP00000463246.1:n.316-108_316-98delinsGGTCAGGAACT
ENST00000580365.1:n.209-108_209-98delinsGGTCAGGAACT
ENST00000581378.5:c.177-89_177-79delinsGGTCAGGAACT
ENST00000581562.5:n.524+372_524+382delinsGGTCAGGAACT
ENST00000582166.1:n.459-108_459-98delinsGGTCAGGAACT
ENST00000583312.5:c.478-108_478-98delinsGGTCAGGAACT	ENSP00000467920.1:n.478-108_478-98delinsGGTCAGGAACT
ENST00000583760.1:n.152_162delinsGGTCAGGAACT
NM_000018.3:c.478-108_478-98delinsGGTCAGGAACT	NP_000009.1:n.478-108_478-98delinsGGTCAGGAACT
NM_001033859.2:c.412-108_412-98delinsGGTCAGGAACT	NP_001029031.1:n.412-108_412-98delinsGGTCAGGAACT
NM_001270447.1:c.547-108_547-98delinsGGTCAGGAACT	NP_001257376.1:n.547-108_547-98delinsGGTCAGGAACT
NM_001270448.1:c.250-108_250-98delinsGGTCAGGAACT	NP_001257377.1:n.250-108_250-98delinsGGTCAGGAACT
XM_006721516.2:c.478-108_478-98delinsGGTCAGGAACT	XP_006721579.2:n.478-108_478-98delinsGGTCAGGAACT
XM_011523829.1:c.478-108_478-98delinsGGTCAGGAACT	XP_011522131.1:n.478-108_478-98delinsGGTCAGGAACT
XM_011523830.1:c.478-108_478-98delinsGGTCAGGAACT	XP_011522132.1:n.478-108_478-98delinsGGTCAGGAACT
XR_934021.1:n.585-108_585-98delinsGGTCAGGAACT
XR_934022.1:n.585-108_585-98delinsGGTCAGGAACT
XR_934023.1:n.585-108_585-98delinsGGTCAGGAACT
XM_006721516.3:c.478-108_478-98delinsGGTCAGGAACT	XP_006721579.2:n.478-108_478-98delinsGGTCAGGAACT
XM_011523829.2:c.478-108_478-98delinsGGTCAGGAACT	XP_011522131.1:n.478-108_478-98delinsGGTCAGGAACT
XM_011523830.2:c.478-108_478-98delinsGGTCAGGAACT	XP_011522132.1:n.478-108_478-98delinsGGTCAGGAACT
XM_024450741.1:c.478-108_478-98delinsGGTCAGGAACT	XP_024306509.1:n.478-108_478-98delinsGGTCAGGAACT
XR_934021.2:n.537-108_537-98delinsGGTCAGGAACT
XR_934022.2:n.537-108_537-98delinsGGTCAGGAACT
XR_934023.2:n.537-108_537-98delinsGGTCAGGAACT
NM_000018.4:c.478-108_478-98delinsGGTCAGGAACT MANE Select	NP_000009.1:n.478-108_478-98delinsGGTCAGGAACT
NM_001033859.3:c.412-108_412-98delinsGGTCAGGAACT	NP_001029031.1:n.412-108_412-98delinsGGTCAGGAACT
NM_001270447.2:c.547-108_547-98delinsGGTCAGGAACT	NP_001257376.1:n.547-108_547-98delinsGGTCAGGAACT
NM_001270448.2:c.250-108_250-98delinsGGTCAGGAACT	NP_001257377.1:n.250-108_250-98delinsGGTCAGGAACT