Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203300329_203300334delinsCTAAGT , CM000664.2:g.203300329_203300334delinsCTAAGT	GRCh38
NC_000002.11:g.204165052_204165057delinsCTAAGT , CM000664.1:g.204165052_204165057delinsCTAAGT	GRCh37
NC_000002.10:g.203873297_203873302delinsCTAAGT	NCBI36
NG_007956.1:g.66889_66894delinsCTAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356079.9:c.3421_3426delinsCTAAGT MANE Select	ENSP00000348380.4:n.3421_3426delinsCTAAGT
ENST00000611416.4:c.3421_3426delinsCTAAGT	ENSP00000477866.1:n.3421_3426delinsCTAAGT
ENST00000613925.4:c.380+3041_380+3046delinsCTAAGT	ENSP00000482757.1:n.380+3041_380+3046delinsCTAAGT
NM_177538.2:c.3421_3426delinsCTAAGT	NP_803882.1:n.3421_3426delinsCTAAGT
NM_001371695.1:c.3421_3426delinsCTAAGT	NP_001358624.1:n.3421_3426delinsCTAAGT
NM_001371696.1:c.3421_3426delinsCTAAGT	NP_001358625.1:n.3421_3426delinsCTAAGT
NM_001371697.1:c.3421_3426delinsCTAAGT	NP_001358626.1:n.3421_3426delinsCTAAGT
NM_001371698.1:c.3421_3426delinsCTAAGT	NP_001358627.1:n.3421_3426delinsCTAAGT
NM_001371699.1:c.3421_3426delinsCTAAGT	NP_001358628.1:n.3421_3426delinsCTAAGT
NM_001371700.1:c.3421_3426delinsCTAAGT	NP_001358629.1:n.3421_3426delinsCTAAGT
NM_001371701.1:c.3421_3426delinsCTAAGT	NP_001358630.1:n.3421_3426delinsCTAAGT
NM_001371702.1:c.3421_3426delinsCTAAGT	NP_001358631.1:n.3421_3426delinsCTAAGT
NM_001371703.1:c.3421_3426delinsCTAAGT	NP_001358632.1:n.3421_3426delinsCTAAGT
NM_001371704.1:c.3421_3426delinsCTAAGT	NP_001358633.1:n.3421_3426delinsCTAAGT
NM_001371705.1:c.3421_3426delinsCTAAGT	NP_001358634.1:n.3421_3426delinsCTAAGT
NM_001371706.1:c.3421_3426delinsCTAAGT	NP_001358635.1:n.3421_3426delinsCTAAGT
NM_177538.3:c.3421_3426delinsCTAAGT MANE Select	NP_803882.1:n.3421_3426delinsCTAAGT
NR_163981.1:n.4734_4739delinsCTAAGT
NR_163982.1:n.4655_4660delinsCTAAGT
NR_163983.1:n.4438_4443delinsCTAAGT
NR_163984.1:n.4497_4502delinsCTAAGT
NR_163985.1:n.4743_4748delinsCTAAGT

HGVS	Amino-acid Change
ENST00000356079.9:c.3421_3426delinsCTAAGT MANE Select	ENSP00000348380.4:n.3421_3426delinsCTAAGT
ENST00000611416.4:c.3421_3426delinsCTAAGT	ENSP00000477866.1:n.3421_3426delinsCTAAGT
ENST00000613925.4:c.380+3041_380+3046delinsCTAAGT	ENSP00000482757.1:n.380+3041_380+3046delinsCTAAGT
NM_177538.2:c.3421_3426delinsCTAAGT	NP_803882.1:n.3421_3426delinsCTAAGT
NM_001371695.1:c.3421_3426delinsCTAAGT	NP_001358624.1:n.3421_3426delinsCTAAGT
NM_001371696.1:c.3421_3426delinsCTAAGT	NP_001358625.1:n.3421_3426delinsCTAAGT
NM_001371697.1:c.3421_3426delinsCTAAGT	NP_001358626.1:n.3421_3426delinsCTAAGT
NM_001371698.1:c.3421_3426delinsCTAAGT	NP_001358627.1:n.3421_3426delinsCTAAGT
NM_001371699.1:c.3421_3426delinsCTAAGT	NP_001358628.1:n.3421_3426delinsCTAAGT
NM_001371700.1:c.3421_3426delinsCTAAGT	NP_001358629.1:n.3421_3426delinsCTAAGT
NM_001371701.1:c.3421_3426delinsCTAAGT	NP_001358630.1:n.3421_3426delinsCTAAGT
NM_001371702.1:c.3421_3426delinsCTAAGT	NP_001358631.1:n.3421_3426delinsCTAAGT
NM_001371703.1:c.3421_3426delinsCTAAGT	NP_001358632.1:n.3421_3426delinsCTAAGT
NM_001371704.1:c.3421_3426delinsCTAAGT	NP_001358633.1:n.3421_3426delinsCTAAGT
NM_001371705.1:c.3421_3426delinsCTAAGT	NP_001358634.1:n.3421_3426delinsCTAAGT
NM_001371706.1:c.3421_3426delinsCTAAGT	NP_001358635.1:n.3421_3426delinsCTAAGT
NM_177538.3:c.3421_3426delinsCTAAGT MANE Select	NP_803882.1:n.3421_3426delinsCTAAGT
NR_163981.1:n.4734_4739delinsCTAAGT
NR_163982.1:n.4655_4660delinsCTAAGT
NR_163983.1:n.4438_4443delinsCTAAGT
NR_163984.1:n.4497_4502delinsCTAAGT
NR_163985.1:n.4743_4748delinsCTAAGT