Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628513_40628514insACGTGATCATGTAT , CM000679.2:g.40628513_40628514insACGTGATCATGTAT	GRCh38
NC_000017.10:g.38784765_38784766insACGTGATCATGTAT , CM000679.1:g.38784765_38784766insACGTGATCATGTAT	GRCh37
NC_000017.9:g.36038291_36038292insACGTGATCATGTAT	NCBI36
NG_032163.1:g.24338_24339insATACATGATCACGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.1069_1070insATACATGATCACGT	ENSP00000466608.2:n.1069_1070insATACATGATCACGT
ENST00000348513.12:c.271_272insATACATGATCACGT MANE Select	ENSP00000323967.6:n.271_272insATACATGATCACGT
ENST00000377808.9:c.494_495insATACATGATCACGT	ENSP00000367039.4:n.494_495insATACATGATCACGT
ENST00000400122.8:c.494_495insATACATGATCACGT	ENSP00000411607.2:n.494_495insATACATGATCACGT
ENST00000469334.6:n.2105_2106insATACATGATCACGT
ENST00000578112.6:c.1304_1305insATACATGATCACGT	ENSP00000464501.1:n.1304_1305insATACATGATCACGT
ENST00000580419.6:c.486_487insATACATGATCACGT	ENSP00000462475.2:n.486_487insATACATGATCACGT
ENST00000642576.1:n.2650_2651insATACATGATCACGT
ENST00000643030.1:n.2130_2131insATACATGATCACGT
ENST00000643255.1:c.3571_3572insATACATGATCACGT	ENSP00000493957.1:n.3571_3572insATACATGATCACGT
ENST00000643318.1:c.271_272insATACATGATCACGT	ENSP00000494771.1:n.271_272insATACATGATCACGT
ENST00000643378.1:n.2062_2063insATACATGATCACGT
ENST00000643683.1:c.271_272insATACATGATCACGT	ENSP00000496094.1:n.271_272insATACATGATCACGT
ENST00000643893.1:n.1800_1801insATACATGATCACGT
ENST00000644443.1:n.3395_3396insATACATGATCACGT
ENST00000644523.1:n.1553_1554insATACATGATCACGT
ENST00000644527.1:c.271_272insATACATGATCACGT	ENSP00000493974.1:n.271_272insATACATGATCACGT
ENST00000644701.1:c.494_495insATACATGATCACGT	ENSP00000496097.1:n.494_495insATACATGATCACGT
ENST00000644909.1:c.776_777insATACATGATCACGT	ENSP00000493649.1:n.776_777insATACATGATCACGT
ENST00000645152.1:n.2170_2171insATACATGATCACGT
ENST00000645227.1:c.1195_1196insATACATGATCACGT	ENSP00000495021.1:n.1195_1196insATACATGATCACGT
ENST00000646242.1:n.7419_7420insATACATGATCACGT
ENST00000646283.1:c.271_272insATACATGATCACGT	ENSP00000494537.1:n.271_272insATACATGATCACGT
ENST00000646401.1:n.2873_2874insATACATGATCACGT
ENST00000646856.1:c.1383_1384insATACATGATCACGT	ENSP00000494505.1:n.1383_1384insATACATGATCACGT
ENST00000647294.1:c.1437_1438insATACATGATCACGT	ENSP00000494815.1:n.1437_1438insATACATGATCACGT
ENST00000647508.1:c.271_272insATACATGATCACGT	ENSP00000496445.1:n.271_272insATACATGATCACGT
ENST00000647515.1:c.1038_1039insATACATGATCACGT	ENSP00000495857.1:n.1038_1039insATACATGATCACGT
ENST00000348513.10:c.271_272insATACATGATCACGT	ENSP00000323967.6:n.271_272insATACATGATCACGT
ENST00000431889.6:c.271_272insATACATGATCACGT	ENSP00000445370.1:n.271_272insATACATGATCACGT
ENST00000469334.5:n.2094_2095insATACATGATCACGT
ENST00000578112.5:c.1304_1305insATACATGATCACGT	ENSP00000464501.1:n.1304_1305insATACATGATCACGT
NM_003079.4:c.271_272insATACATGATCACGT	NP_003070.3:n.271_272insATACATGATCACGT
NM_003079.5:c.271_272insATACATGATCACGT MANE Select	NP_003070.3:n.271_272insATACATGATCACGT

HGVS	Amino-acid Change
ENST00000264640.9:c.1069_1070insATACATGATCACGT	ENSP00000466608.2:n.1069_1070insATACATGATCACGT
ENST00000348513.12:c.271_272insATACATGATCACGT MANE Select	ENSP00000323967.6:n.271_272insATACATGATCACGT
ENST00000377808.9:c.494_495insATACATGATCACGT	ENSP00000367039.4:n.494_495insATACATGATCACGT
ENST00000400122.8:c.494_495insATACATGATCACGT	ENSP00000411607.2:n.494_495insATACATGATCACGT
ENST00000469334.6:n.2105_2106insATACATGATCACGT
ENST00000578112.6:c.1304_1305insATACATGATCACGT	ENSP00000464501.1:n.1304_1305insATACATGATCACGT
ENST00000580419.6:c.486_487insATACATGATCACGT	ENSP00000462475.2:n.486_487insATACATGATCACGT
ENST00000642576.1:n.2650_2651insATACATGATCACGT
ENST00000643030.1:n.2130_2131insATACATGATCACGT
ENST00000643255.1:c.3571_3572insATACATGATCACGT	ENSP00000493957.1:n.3571_3572insATACATGATCACGT
ENST00000643318.1:c.271_272insATACATGATCACGT	ENSP00000494771.1:n.271_272insATACATGATCACGT
ENST00000643378.1:n.2062_2063insATACATGATCACGT
ENST00000643683.1:c.271_272insATACATGATCACGT	ENSP00000496094.1:n.271_272insATACATGATCACGT
ENST00000643893.1:n.1800_1801insATACATGATCACGT
ENST00000644443.1:n.3395_3396insATACATGATCACGT
ENST00000644523.1:n.1553_1554insATACATGATCACGT
ENST00000644527.1:c.271_272insATACATGATCACGT	ENSP00000493974.1:n.271_272insATACATGATCACGT
ENST00000644701.1:c.494_495insATACATGATCACGT	ENSP00000496097.1:n.494_495insATACATGATCACGT
ENST00000644909.1:c.776_777insATACATGATCACGT	ENSP00000493649.1:n.776_777insATACATGATCACGT
ENST00000645152.1:n.2170_2171insATACATGATCACGT
ENST00000645227.1:c.1195_1196insATACATGATCACGT	ENSP00000495021.1:n.1195_1196insATACATGATCACGT
ENST00000646242.1:n.7419_7420insATACATGATCACGT
ENST00000646283.1:c.271_272insATACATGATCACGT	ENSP00000494537.1:n.271_272insATACATGATCACGT
ENST00000646401.1:n.2873_2874insATACATGATCACGT
ENST00000646856.1:c.1383_1384insATACATGATCACGT	ENSP00000494505.1:n.1383_1384insATACATGATCACGT
ENST00000647294.1:c.1437_1438insATACATGATCACGT	ENSP00000494815.1:n.1437_1438insATACATGATCACGT
ENST00000647508.1:c.271_272insATACATGATCACGT	ENSP00000496445.1:n.271_272insATACATGATCACGT
ENST00000647515.1:c.1038_1039insATACATGATCACGT	ENSP00000495857.1:n.1038_1039insATACATGATCACGT
ENST00000348513.10:c.271_272insATACATGATCACGT	ENSP00000323967.6:n.271_272insATACATGATCACGT
ENST00000431889.6:c.271_272insATACATGATCACGT	ENSP00000445370.1:n.271_272insATACATGATCACGT
ENST00000469334.5:n.2094_2095insATACATGATCACGT
ENST00000578112.5:c.1304_1305insATACATGATCACGT	ENSP00000464501.1:n.1304_1305insATACATGATCACGT
NM_003079.4:c.271_272insATACATGATCACGT	NP_003070.3:n.271_272insATACATGATCACGT
NM_003079.5:c.271_272insATACATGATCACGT MANE Select	NP_003070.3:n.271_272insATACATGATCACGT