Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29696452_29696456delinsAAGAT , CM000684.2:g.29696452_29696456delinsAAGAT	GRCh38
NC_000022.10:g.30092441_30092445delinsAAGAT , CM000684.1:g.30092441_30092445delinsAAGAT	GRCh37
NC_000022.9:g.28422441_28422445delinsAAGAT	NCBI36
NG_009057.1:g.97897_97901delinsAAGAT , LRG_511:g.97897_97901delinsAAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338641.10:c.1650_1654delinsAAGAT MANE Select	ENSP00000344666.5:n.1650_1654delinsAAGAT
ENST00000672461.1:c.502-809_502-805delinsAAGAT	ENSP00000500919.1:n.502-809_502-805delinsAAGAT
ENST00000672896.1:c.1710_1714delinsAAGAT	ENSP00000500117.1:n.1710_1714delinsAAGAT
ENST00000338641.8:c.1650_1654delinsAAGAT	ENSP00000344666.4:n.1650_1654delinsAAGAT
ENST00000361452.8:c.1710_1714delinsAAGAT	ENSP00000354897.4:n.1710_1714delinsAAGAT
ENST00000413209.6:c.1650_1654delinsAAGAT	ENSP00000409921.2:n.1650_1654delinsAAGAT
NM_000268.3:c.1650_1654delinsAAGAT , LRG_511t1:c.1650_1654delinsAAGAT	NP_000259.1:n.1650_1654delinsAAGAT
NM_016418.5:c.1710_1714delinsAAGAT , LRG_511t2:c.1710_1714delinsAAGAT	NP_057502.2:n.1710_1714delinsAAGAT
NM_181828.2:c.1710_1714delinsAAGAT	NP_861966.1:n.1710_1714delinsAAGAT
NM_181829.2:c.1710_1714delinsAAGAT	NP_861967.1:n.1710_1714delinsAAGAT
NM_181830.2:c.1710_1714delinsAAGAT	NP_861968.1:n.1710_1714delinsAAGAT
NM_181832.2:c.1725_1729delinsAAGAT	NP_861970.1:n.1725_1729delinsAAGAT
NM_181833.2:c.1650_1654delinsAAGAT	NP_861971.1:n.1650_1654delinsAAGAT
NR_156186.1:n.3997_4001delinsAAGAT
XM_017028810.1:c.1710_1714delinsAAGAT	XP_016884299.1:n.1710_1714delinsAAGAT
NM_000268.4:c.1650_1654delinsAAGAT MANE Select	NP_000259.1:n.1650_1654delinsAAGAT
NM_181828.3:c.1710_1714delinsAAGAT	NP_861966.1:n.1710_1714delinsAAGAT
NM_181829.3:c.1710_1714delinsAAGAT	NP_861967.1:n.1710_1714delinsAAGAT
NM_181830.3:c.1710_1714delinsAAGAT	NP_861968.1:n.1710_1714delinsAAGAT
NM_181832.3:c.1725_1729delinsAAGAT	NP_861970.1:n.1725_1729delinsAAGAT
NR_156186.2:n.3920_3924delinsAAGAT
NM_181833.3:c.1650_1654delinsAAGAT	NP_861971.1:n.1650_1654delinsAAGAT

HGVS	Amino-acid Change
ENST00000338641.10:c.1650_1654delinsAAGAT MANE Select	ENSP00000344666.5:n.1650_1654delinsAAGAT
ENST00000672461.1:c.502-809_502-805delinsAAGAT	ENSP00000500919.1:n.502-809_502-805delinsAAGAT
ENST00000672896.1:c.1710_1714delinsAAGAT	ENSP00000500117.1:n.1710_1714delinsAAGAT
ENST00000338641.8:c.1650_1654delinsAAGAT	ENSP00000344666.4:n.1650_1654delinsAAGAT
ENST00000361452.8:c.1710_1714delinsAAGAT	ENSP00000354897.4:n.1710_1714delinsAAGAT
ENST00000413209.6:c.1650_1654delinsAAGAT	ENSP00000409921.2:n.1650_1654delinsAAGAT
NM_000268.3:c.1650_1654delinsAAGAT , LRG_511t1:c.1650_1654delinsAAGAT	NP_000259.1:n.1650_1654delinsAAGAT
NM_016418.5:c.1710_1714delinsAAGAT , LRG_511t2:c.1710_1714delinsAAGAT	NP_057502.2:n.1710_1714delinsAAGAT
NM_181828.2:c.1710_1714delinsAAGAT	NP_861966.1:n.1710_1714delinsAAGAT
NM_181829.2:c.1710_1714delinsAAGAT	NP_861967.1:n.1710_1714delinsAAGAT
NM_181830.2:c.1710_1714delinsAAGAT	NP_861968.1:n.1710_1714delinsAAGAT
NM_181832.2:c.1725_1729delinsAAGAT	NP_861970.1:n.1725_1729delinsAAGAT
NM_181833.2:c.1650_1654delinsAAGAT	NP_861971.1:n.1650_1654delinsAAGAT
NR_156186.1:n.3997_4001delinsAAGAT
XM_017028810.1:c.1710_1714delinsAAGAT	XP_016884299.1:n.1710_1714delinsAAGAT
NM_000268.4:c.1650_1654delinsAAGAT MANE Select	NP_000259.1:n.1650_1654delinsAAGAT
NM_181828.3:c.1710_1714delinsAAGAT	NP_861966.1:n.1710_1714delinsAAGAT
NM_181829.3:c.1710_1714delinsAAGAT	NP_861967.1:n.1710_1714delinsAAGAT
NM_181830.3:c.1710_1714delinsAAGAT	NP_861968.1:n.1710_1714delinsAAGAT
NM_181832.3:c.1725_1729delinsAAGAT	NP_861970.1:n.1725_1729delinsAAGAT
NR_156186.2:n.3920_3924delinsAAGAT
NM_181833.3:c.1650_1654delinsAAGAT	NP_861971.1:n.1650_1654delinsAAGAT