Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161356849_161356850delinsAT , CM000663.2:g.161356849_161356850delinsAT	GRCh38
NC_000001.10:g.161326639_161326640delinsAT , CM000663.1:g.161326639_161326640delinsAT	GRCh37
NC_000001.9:g.159593263_159593264delinsAT	NCBI36
NG_012767.1:g.47474_47475delinsAT , LRG_317:g.47474_47475delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.406+9_406+10delinsAT	ENSP00000482902.2:n.406+9_406+10delinsAT
ENST00000367975.7:c.405+9_405+10delinsAT MANE Select	ENSP00000356953.3:n.405+9_405+10delinsAT
ENST00000342751.8:c.242-5480_242-5479delinsAT	ENSP00000356952.3:n.242-5480_242-5479delinsAT
ENST00000367975.6:c.405+9_405+10delinsAT	ENSP00000356953.2:n.405+9_405+10delinsAT
ENST00000392169.6:c.246+9_246+10delinsAT	ENSP00000376009.2:n.246+9_246+10delinsAT
ENST00000432287.6:c.303+9_303+10delinsAT	ENSP00000390558.2:n.303+9_303+10delinsAT
ENST00000470743.4:c.503+9_503+10delinsAT
ENST00000504963.5:c.228+9_228+10delinsAT	ENSP00000423929.1:n.228+9_228+10delinsAT
ENST00000513009.5:c.140-5480_140-5479delinsAT	ENSP00000423260.1:n.140-5480_140-5479delinsAT
NM_001035511.1:c.242-5480_242-5479delinsAT	NP_001030588.1:n.242-5480_242-5479delinsAT
NM_001035512.1:c.303+9_303+10delinsAT	NP_001030589.1:n.303+9_303+10delinsAT
NM_001035513.1:c.246+9_246+10delinsAT	NP_001030590.1:n.246+9_246+10delinsAT
NM_001278172.1:c.140-5480_140-5479delinsAT	NP_001265101.1:n.140-5480_140-5479delinsAT
NM_003001.3:c.405+9_405+10delinsAT , LRG_317t1:c.405+9_405+10delinsAT	NP_002992.1:n.405+9_405+10delinsAT
NR_103459.1:n.462+9_462+10delinsAT
NM_001035511.2:c.242-5480_242-5479delinsAT	NP_001030588.1:n.242-5480_242-5479delinsAT
NM_001035512.2:c.303+9_303+10delinsAT	NP_001030589.1:n.303+9_303+10delinsAT
NM_001035513.2:c.246+9_246+10delinsAT	NP_001030590.1:n.246+9_246+10delinsAT
NM_001278172.2:c.140-5480_140-5479delinsAT	NP_001265101.1:n.140-5480_140-5479delinsAT
NM_003001.5:c.405+9_405+10delinsAT MANE Select	NP_002992.1:n.405+9_405+10delinsAT
NR_103459.2:n.457+9_457+10delinsAT