Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.140800754_140800755delinsAT , CM000669.2:g.140800754_140800755delinsAT	GRCh38
NC_000007.13:g.140500554_140500555delinsAT , CM000669.1:g.140500554_140500555delinsAT	GRCh37
NC_000007.12:g.140147023_140147024delinsAT	NCBI36
NG_007873.3:g.129010_129011delinsAT , LRG_299:g.129010_129011delinsAT

Transcript Alleles

HGVS	Amino-acid Change
NM_004333.6:c.861-274_861-273delinsAT MANE Select	NP_004324.2:n.861-274_861-273delinsAT
ENST00000646891.2:c.861-274_861-273delinsAT MANE Select	ENSP00000493543.1:n.861-274_861-273delinsAT
NM_001374258.1:c.861-274_861-273delinsAT MANE Plus Clinical	NP_001361187.1:n.861-274_861-273delinsAT
ENST00000644969.2:c.861-274_861-273delinsAT MANE Plus Clinical	ENSP00000496776.1:n.861-274_861-273delinsAT
NM_001354609.1:c.861-274_861-273delinsAT	NP_001341538.1:n.861-274_861-273delinsAT
NM_001354609.2:c.861-274_861-273delinsAT	NP_001341538.1:n.861-274_861-273delinsAT
NM_001374244.1:c.861-274_861-273delinsAT	NP_001361173.1:n.861-274_861-273delinsAT
NM_001378467.1:c.870-274_870-273delinsAT	NP_001365396.1:n.870-274_870-273delinsAT
NM_001378468.1:c.861-274_861-273delinsAT	NP_001365397.1:n.861-274_861-273delinsAT
NM_001378469.1:c.861-274_861-273delinsAT	NP_001365398.1:n.861-274_861-273delinsAT
NM_001378470.1:c.759-274_759-273delinsAT	NP_001365399.1:n.759-274_759-273delinsAT
NM_001378471.1:c.861-274_861-273delinsAT	NP_001365400.1:n.861-274_861-273delinsAT
NM_001378472.1:c.705-274_705-273delinsAT	NP_001365401.1:n.705-274_705-273delinsAT
NM_001378473.1:c.705-274_705-273delinsAT	NP_001365402.1:n.705-274_705-273delinsAT
NM_001378474.1:c.861-274_861-273delinsAT	NP_001365403.1:n.861-274_861-273delinsAT
NM_001378475.1:c.597-274_597-273delinsAT	NP_001365404.1:n.597-274_597-273delinsAT
NM_004333.4:c.861-274_861-273delinsAT , LRG_299t1:c.861-274_861-273delinsAT	NP_004324.2:n.861-274_861-273delinsAT
NM_004333.5:c.861-274_861-273delinsAT	NP_004324.2:n.861-274_861-273delinsAT
NR_148928.1:n.1166-274_1166-273delinsAT
ENST00000288602.10:c.861-274_861-273delinsAT	ENSP00000288602.6:n.861-274_861-273delinsAT
ENST00000288602.11:c.861-274_861-273delinsAT	ENSP00000288602.7:n.861-274_861-273delinsAT
ENST00000496384.7:c.861-274_861-273delinsAT	ENSP00000419060.2:n.861-274_861-273delinsAT
ENST00000497784.1:c.896-274_896-273delinsAT	ENSP00000420119.1:n.896-274_896-273delinsAT
ENST00000497784.2:c.311-274_311-273delinsAT	ENSP00000420119.2:n.311-274_311-273delinsAT
ENST00000642228.1:c.861-293_861-292delinsAT	ENSP00000493678.1:n.861-293_861-292delinsAT
ENST00000642272.1:n.893-274_893-273delinsAT
ENST00000642875.1:n.355-274_355-273delinsAT
ENST00000644120.1:n.1303-274_1303-273delinsAT
ENST00000644905.1:n.950-274_950-273delinsAT
ENST00000646730.1:c.861-274_861-273delinsAT	ENSP00000494784.1:n.861-274_861-273delinsAT
ENST00000646891.1:c.861-274_861-273delinsAT	ENSP00000493543.1:n.861-274_861-273delinsAT
XM_005250045.1:c.861-274_861-273delinsAT	XP_005250102.1:n.861-274_861-273delinsAT
XM_005250046.1:c.861-274_861-273delinsAT	XP_005250103.1:n.861-274_861-273delinsAT
XM_011516529.1:c.861-274_861-273delinsAT	XP_011514831.1:n.861-274_861-273delinsAT
XM_011516530.1:c.861-274_861-273delinsAT	XP_011514832.1:n.861-274_861-273delinsAT
XM_017012558.1:c.861-274_861-273delinsAT	XP_016868047.1:n.861-274_861-273delinsAT
XM_017012559.1:c.861-274_861-273delinsAT	XP_016868048.1:n.861-274_861-273delinsAT
XR_001744857.1:n.869-274_869-273delinsAT
XR_001744858.1:n.869-274_869-273delinsAT
XR_242190.1:n.869-274_869-273delinsAT
XR_927520.1:n.869-274_869-273delinsAT
XR_927521.1:n.869-274_869-273delinsAT
XR_927522.1:n.869-274_869-273delinsAT
XR_927523.1:n.869-274_869-273delinsAT