Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154030370_154030374delinsGCTAA , CM000685.2:g.154030370_154030374delinsGCTAA	GRCh38
NC_000023.10:g.153295821_153295825delinsGCTAA , CM000685.1:g.153295821_153295825delinsGCTAA	GRCh37
NC_000023.9:g.152949015_152949019delinsGCTAA	NCBI36
NG_007107.2:g.111754_111758delinsTTAGC
NG_007107.3:g.111730_111734delinsTTAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303391.11:c.1454_1458delinsTTAGC MANE Plus Clinical	ENSP00000301948.6:p.Val485=
ENST00000453960.7:c.1490_1494delinsTTAGC MANE Select	ENSP00000395535.2:p.Val497=
ENST00000303391.10:c.1454_1458delinsTTAGC	ENSP00000301948.6:p.Val485=
ENST00000453960.6:c.1490_1494delinsTTAGC	ENSP00000395535.2:p.Val497=
ENST00000619732.4:c.1450_1454delinsTTAGC	ENSP00000480973.1:p.Leu484=
ENST00000628176.2:c.826_830delinsTTAGC	ENSP00000486978.1:n.826_830delinsTTAGC
NM_001110792.1:c.1490_1494delinsTTAGC	NP_001104262.1:p.Val497=
NM_001316337.1:c.1175_1179delinsTTAGC	NP_001303266.1:p.Val392=
NM_004992.3:c.1454_1458delinsTTAGC	NP_004983.1:p.Val485=
XM_005274681.3:c.1454_1458delinsTTAGC	XP_005274738.1:p.Val485=
XM_005274682.3:c.1175_1179delinsTTAGC	XP_005274739.1:p.Val392=
XM_005274683.3:c.1175_1179delinsTTAGC	XP_005274740.1:p.Val392=
XM_006724819.2:c.785_789delinsTTAGC	XP_006724882.1:p.Val262=
XM_011531166.1:c.1175_1179delinsTTAGC	XP_011529468.1:p.Val392=
XM_006724819.3:c.785_789delinsTTAGC	XP_006724882.1:p.Val262=
XM_011531166.2:c.1175_1179delinsTTAGC	XP_011529468.1:p.Val392=
XM_024452383.1:c.1175_1179delinsTTAGC	XP_024308151.1:p.Val392=
XM_024452384.1:c.1175_1179delinsTTAGC	XP_024308152.1:p.Val392=
NM_001110792.2:c.1490_1494delinsTTAGC MANE Select	NP_001104262.1:p.Val497=
NM_001316337.2:c.1175_1179delinsTTAGC	NP_001303266.1:p.Val392=
NM_001369391.2:c.1175_1179delinsTTAGC	NP_001356320.1:p.Val392=
NM_001369392.2:c.1175_1179delinsTTAGC	NP_001356321.1:p.Val392=
NM_001369393.2:c.1175_1179delinsTTAGC	NP_001356322.1:p.Val392=
NM_001369394.1:c.1175_1179delinsTTAGC	NP_001356323.1:p.Val392=
NM_001369394.2:c.1175_1179delinsTTAGC	NP_001356323.1:p.Val392=
NM_001386137.1:c.785_789delinsTTAGC	NP_001373066.1:p.Val262=
NM_001386138.1:c.785_789delinsTTAGC	NP_001373067.1:p.Val262=
NM_001386139.1:c.785_789delinsTTAGC	NP_001373068.1:p.Val262=
NM_004992.4:c.1454_1458delinsTTAGC MANE Plus Clinical	NP_004983.1:p.Val485=