Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541181_128541185delinsTCACC , CM000671.2:g.128541181_128541185delinsTCACC	GRCh38
NC_000009.11:g.131303460_131303464delinsTCACC , CM000671.1:g.131303460_131303464delinsTCACC	GRCh37
NC_000009.10:g.130343281_130343285delinsTCACC	NCBI36
NG_012073.1:g.41490_41494delinsTCACC , LRG_484:g.41490_41494delinsTCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.1179_1183delinsTCACC	ENSP00000507095.1:n.1179_1183delinsTCACC
ENST00000683288.1:c.2107_2111delinsTCACC	ENSP00000507477.1:n.2107_2111delinsTCACC
ENST00000683748.1:c.11_15delinsTCACC	ENSP00000507377.1:n.11_15delinsTCACC
ENST00000683905.1:c.784_788delinsTCACC	ENSP00000506960.1:n.784_788delinsTCACC
ENST00000684139.1:c.11_15delinsTCACC	ENSP00000507295.1:n.11_15delinsTCACC
ENST00000684210.1:n.1821_1825delinsTCACC
ENST00000684314.1:c.11_15delinsTCACC	ENSP00000507700.1:n.11_15delinsTCACC
ENST00000684331.1:c.828_832delinsTCACC	ENSP00000507431.1:n.828_832delinsTCACC
ENST00000684463.1:n.746_750delinsTCACC
ENST00000684646.1:c.11_15delinsTCACC	ENSP00000507723.1:n.11_15delinsTCACC
ENST00000309971.9:c.11_15delinsTCACC MANE Select	ENSP00000308622.5:n.11_15delinsTCACC
ENST00000309971.8:c.11_15delinsTCACC	ENSP00000308622.4:n.11_15delinsTCACC
NM_001003722.1:c.11_15delinsTCACC , LRG_484t1:c.11_15delinsTCACC	NP_001003722.1:n.11_15delinsTCACC
XM_006717059.2:c.11_15delinsTCACC	XP_006717122.1:n.11_15delinsTCACC
XM_006717060.2:c.11_15delinsTCACC	XP_006717123.1:n.11_15delinsTCACC
XM_011518549.1:c.11_15delinsTCACC	XP_011516851.1:n.11_15delinsTCACC
XM_011518550.1:c.11_15delinsTCACC	XP_011516852.1:n.11_15delinsTCACC
XM_011518551.1:c.11_15delinsTCACC	XP_011516853.1:n.11_15delinsTCACC
XM_011518552.1:c.11_15delinsTCACC	XP_011516854.1:n.11_15delinsTCACC
XR_242681.3:n.100+2194_100+2198delinsGGTGA
XM_006717059.3:c.11_15delinsTCACC	XP_006717122.1:n.11_15delinsTCACC
XM_006717060.3:c.11_15delinsTCACC	XP_006717123.1:n.11_15delinsTCACC
XM_011518551.2:c.11_15delinsTCACC	XP_011516853.1:n.11_15delinsTCACC
XM_024447519.1:c.11_15delinsTCACC	XP_024303287.1:n.11_15delinsTCACC
NM_001003722.2:c.11_15delinsTCACC MANE Select	NP_001003722.1:n.11_15delinsTCACC

HGVS	Amino-acid Change
ENST00000683044.1:c.1179_1183delinsTCACC	ENSP00000507095.1:n.1179_1183delinsTCACC
ENST00000683288.1:c.2107_2111delinsTCACC	ENSP00000507477.1:n.2107_2111delinsTCACC
ENST00000683748.1:c.11_15delinsTCACC	ENSP00000507377.1:n.11_15delinsTCACC
ENST00000683905.1:c.784_788delinsTCACC	ENSP00000506960.1:n.784_788delinsTCACC
ENST00000684139.1:c.11_15delinsTCACC	ENSP00000507295.1:n.11_15delinsTCACC
ENST00000684210.1:n.1821_1825delinsTCACC
ENST00000684314.1:c.11_15delinsTCACC	ENSP00000507700.1:n.11_15delinsTCACC
ENST00000684331.1:c.828_832delinsTCACC	ENSP00000507431.1:n.828_832delinsTCACC
ENST00000684463.1:n.746_750delinsTCACC
ENST00000684646.1:c.11_15delinsTCACC	ENSP00000507723.1:n.11_15delinsTCACC
ENST00000309971.9:c.11_15delinsTCACC MANE Select	ENSP00000308622.5:n.11_15delinsTCACC
ENST00000309971.8:c.11_15delinsTCACC	ENSP00000308622.4:n.11_15delinsTCACC
NM_001003722.1:c.11_15delinsTCACC , LRG_484t1:c.11_15delinsTCACC	NP_001003722.1:n.11_15delinsTCACC
XM_006717059.2:c.11_15delinsTCACC	XP_006717122.1:n.11_15delinsTCACC
XM_006717060.2:c.11_15delinsTCACC	XP_006717123.1:n.11_15delinsTCACC
XM_011518549.1:c.11_15delinsTCACC	XP_011516851.1:n.11_15delinsTCACC
XM_011518550.1:c.11_15delinsTCACC	XP_011516852.1:n.11_15delinsTCACC
XM_011518551.1:c.11_15delinsTCACC	XP_011516853.1:n.11_15delinsTCACC
XM_011518552.1:c.11_15delinsTCACC	XP_011516854.1:n.11_15delinsTCACC
XR_242681.3:n.100+2194_100+2198delinsGGTGA
XM_006717059.3:c.11_15delinsTCACC	XP_006717122.1:n.11_15delinsTCACC
XM_006717060.3:c.11_15delinsTCACC	XP_006717123.1:n.11_15delinsTCACC
XM_011518551.2:c.11_15delinsTCACC	XP_011516853.1:n.11_15delinsTCACC
XM_024447519.1:c.11_15delinsTCACC	XP_024303287.1:n.11_15delinsTCACC
NM_001003722.2:c.11_15delinsTCACC MANE Select	NP_001003722.1:n.11_15delinsTCACC