Allele Registry

HGVS	Genome Assembly
NC_000015.10:g.89317425_89317437delinsTTTACAATCCATG , CM000677.2:g.89317425_89317437delinsTTTACAATCCATG	GRCh38
NC_000015.9:g.89860656_89860668delinsTTTACAATCCATG , CM000677.1:g.89860656_89860668delinsTTTACAATCCATG	GRCh37
NC_000015.8:g.87661660_87661672delinsTTTACAATCCATG	NCBI36
NG_008218.1:g.22359_22371delinsCATGGATTGTAAA
NG_011736.1:g.78463_78475delinsTTTACAATCCATG , LRG_500:g.78463_78475delinsTTTACAATCCATG
NG_008218.2:g.22359_22371delinsCATGGATTGTAAA

HGVS	Amino-acid Change
ENST00000636937.2:c.3582_3594delinsCATGGATTGTAAA	ENSP00000516154.1:p.Thr1194=
ENST00000268124.11:c.3582_3594delinsCATGGATTGTAAA MANE Select	ENSP00000268124.5:p.Thr1194=
ENST00000530292.3:c.3282_3294delinsCATGGATTGTAAA	ENSP00000432885.2:n.3282_3294delinsCATGGATTGTAAA
ENST00000635986.2:c.652_664delinsCATGGATTGTAAA	ENSP00000490653.2:n.652_664delinsCATGGATTGTAAA
ENST00000636774.1:c.2186_2198delinsCATGGATTGTAAA	ENSP00000489799.1:n.2186_2198delinsCATGGATTGTAAA
ENST00000637238.1:c.2490_2502delinsCATGGATTGTAAA	ENSP00000490756.1:n.2490_2502delinsCATGGATTGTAAA
ENST00000637264.1:c.2594_2606delinsCATGGATTGTAAA
ENST00000666746.1:c.3159_3171delinsCATGGATTGTAAA
ENST00000672071.1:n.4784_4796delinsCATGGATTGTAAA
ENST00000672695.1:n.1361_1373delinsCATGGATTGTAAA
ENST00000672923.2:n.3582_3594delinsCATGGATTGTAAA
ENST00000268124.9:c.3582_3594delinsCATGGATTGTAAA	ENSP00000268124.5:p.Thr1194=
ENST00000442287.6:c.3582_3594delinsCATGGATTGTAAA	ENSP00000399851.2:p.Thr1194=
ENST00000526671.1:n.392_404delinsCATGGATTGTAAA
ENST00000530292.2:c.765_777delinsCATGGATTGTAAA	ENSP00000432885.1:n.765_777delinsCATGGATTGTAAA
ENST00000631044.2:c.3006_3018delinsCATGGATTGTAAA	ENSP00000486730.1:n.3006_3018delinsCATGGATTGTAAA
NM_001126131.1:c.3582_3594delinsCATGGATTGTAAA	NP_001119603.1:p.Thr1194=
NM_002693.2:c.3582_3594delinsCATGGATTGTAAA	NP_002684.1:p.Thr1194=
NM_001126131.2:c.3582_3594delinsCATGGATTGTAAA	NP_001119603.1:p.Thr1194=
NM_002693.3:c.3582_3594delinsCATGGATTGTAAA MANE Select	NP_002684.1:p.Thr1194=