Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.191105315_191105316delinsAT , CM000664.2:g.191105315_191105316delinsAT	GRCh38
NC_000002.11:g.191970041_191970042delinsAT , CM000664.1:g.191970041_191970042delinsAT	GRCh37
NC_000002.10:g.191678286_191678287delinsAT	NCBI36
NG_012852.1:g.50884_50885delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392320.7:c.274-28991_274-28990delinsAT MANE Select	ENSP00000376134.2:n.274-28991_274-28990delinsAT
ENST00000647167.1:c.274-28991_274-28990delinsAT	ENSP00000495153.1:n.274-28991_274-28990delinsAT
ENST00000358470.8:c.274-28991_274-28990delinsAT	ENSP00000351255.4:n.274-28991_274-28990delinsAT
ENST00000392320.6:c.274-28991_274-28990delinsAT	ENSP00000376134.2:n.274-28991_274-28990delinsAT
ENST00000413064.5:c.193-28991_193-28990delinsAT	ENSP00000403238.1:n.193-28991_193-28990delinsAT
ENST00000495326.1:n.344-28991_344-28990delinsAT
ENST00000495849.5:n.342-28991_342-28990delinsAT
NM_001243835.1:c.274-28991_274-28990delinsAT	NP_001230764.1:n.274-28991_274-28990delinsAT
NM_003151.3:c.274-28991_274-28990delinsAT	NP_003142.1:n.274-28991_274-28990delinsAT
XM_005246817.3:c.301-28991_301-28990delinsAT	XP_005246874.1:n.301-28991_301-28990delinsAT
XM_006712719.2:c.274-28991_274-28990delinsAT	XP_006712782.1:n.274-28991_274-28990delinsAT
XM_011511704.1:c.301-28991_301-28990delinsAT	XP_011510006.1:n.301-28991_301-28990delinsAT
XM_011511705.1:c.274-28991_274-28990delinsAT	XP_011510007.1:n.274-28991_274-28990delinsAT
XM_011511706.1:c.301-28991_301-28990delinsAT	XP_011510008.1:n.301-28991_301-28990delinsAT
XM_006712719.3:c.274-28991_274-28990delinsAT	XP_006712782.1:n.274-28991_274-28990delinsAT
XM_011511705.2:c.274-28991_274-28990delinsAT	XP_011510007.1:n.274-28991_274-28990delinsAT
XM_017004784.2:c.274-28991_274-28990delinsAT	XP_016860273.1:n.274-28991_274-28990delinsAT
NM_003151.4:c.274-28991_274-28990delinsAT MANE Select	NP_003142.1:n.274-28991_274-28990delinsAT
NM_001243835.2:c.274-28991_274-28990delinsAT	NP_001230764.1:n.274-28991_274-28990delinsAT