Linked Data
dbSNP Id:
rs763643802
gnomAD v3:
11-64220367-T-TGGGGCA
gnomAD v4:
11-64220367-T-TGGGGCA
MyVariant Identifiers:
chr11:g.63987839_63987840insGGGGCA (hg19)
chr11:g.64220367_64220368insGGGGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220379_64220384dup , CM000673.2:g.64220379_64220384dup | GRCh38 |
| NC_000011.9:g.63987851_63987856dup , CM000673.1:g.63987851_63987856dup | GRCh37 |
| NC_000011.8:g.63744427_63744432dup | NCBI36 |
| NG_016360.1:g.18700_18705dup , LRG_180:g.18700_18705dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1323+53_1324-52dup | ENSP00000279227.5:n.1323+53_1324-52dup | |
| ENST00000540554.2:n.2433_2438dup | ||
| ENST00000541252.2:c.771+53_772-52dup | ENSP00000438885.2:n.771+53_772-52dup | |
| ENST00000541326.6:n.676_681dup | ||
| ENST00000544997.6:c.1311+53_1312-52dup | ENSP00000445778.2:n.1311+53_1312-52dup | |
| ENST00000546255.2:n.1559_1564dup | ||
| ENST00000698845.1:c.*506+53_*507-52dup | ENSP00000513981.1:n.*506+53_*507-52dup | |
| ENST00000698846.1:n.1501_1506dup | ||
| ENST00000698847.1:c.*716+53_*717-52dup | ENSP00000513982.1:n.*716+53_*717-52dup | |
| ENST00000698848.1:n.553_558dup | ||
| ENST00000698849.1:n.431+53_432-52dup | ||
| ENST00000698850.1:n.1023_1028dup | ||
| ENST00000698852.1:c.1311+53_1312-52dup | ENSP00000513984.1:n.1311+53_1312-52dup | |
| ENST00000698853.1:c.*540+53_*541-52dup | ENSP00000513985.1:n.*540+53_*541-52dup | |
| ENST00000698854.1:c.*641+53_*642-52dup | ENSP00000513986.1:n.*641+53_*642-52dup | |
| ENST00000698855.1:n.2963+53_2964-52dup | ||
| ENST00000698856.1:n.2601_2606dup | ||
| ENST00000698859.1:n.1475+53_1476-52dup | ||
| ENST00000698860.1:c.1323+53_1324-52dup | ENSP00000513988.1:n.1323+53_1324-52dup | |
| ENST00000698861.1:c.1311+53_1312-52dup | ENSP00000513989.1:n.1311+53_1312-52dup | |
| ENST00000698862.1:c.*607+53_*608-52dup | ENSP00000513990.1:n.*607+53_*608-52dup | |
| ENST00000698863.1:c.1311+53_1312-52dup | ENSP00000513991.1:n.1311+53_1312-52dup | |
| ENST00000698864.1:n.1470_1475dup | ||
| ENST00000698865.1:c.1332+53_1333-52dup | ENSP00000513992.1:n.1332+53_1333-52dup | |
| ENST00000698866.1:c.*769_*774dup | ENSP00000513993.1:n.*769_*774dup | |
| ENST00000698867.1:n.5286+53_5287-52dup | ||
| ENST00000698868.1:c.1176+53_1177-52dup | ENSP00000513994.1:n.1176+53_1177-52dup | |
| ENST00000698869.1:c.1311+53_1311+58dup | ENSP00000513995.1:n.1311+53_1311+58dup | |
| ENST00000698870.1:c.1311+53_1312-52dup | ENSP00000513996.1:n.1311+53_1312-52dup | |
| ENST00000698871.1:n.1834+53_1835-52dup | ||
| ENST00000698872.1:c.*100+53_*101-52dup | ENSP00000513997.1:n.*100+53_*101-52dup | |
| ENST00000698873.1:c.*506+53_*507-52dup | ENSP00000513998.1:n.*506+53_*507-52dup | |
| ENST00000698874.1:c.771+53_772-52dup | ENSP00000513999.1:n.771+53_772-52dup | |
| ENST00000698875.1:n.1171+53_1172-52dup | ||
| ENST00000698876.1:n.1303_1308dup | ||
| ENST00000698877.1:n.879+53_880-52dup | ||
| ENST00000698878.1:c.1311+53_1312-58dup | ENSP00000514000.1:n.1311+53_1312-58dup | |
| ENST00000698880.1:c.1152-29_1152-24dup | ||
| ENST00000345728.10:c.1311+53_1312-52dup MANE Select | ENSP00000339950.5:n.1311+53_1312-52dup | |
| ENST00000279227.9:c.1323+53_1324-52dup | ENSP00000279227.5:n.1323+53_1324-52dup | |
| ENST00000345728.9:c.1311+53_1312-52dup | ENSP00000339950.5:n.1311+53_1312-52dup | |
| ENST00000540957.1:n.517_522dup | ||
| ENST00000541326.5:n.671_676dup | ||
| NM_031471.5:c.1311+53_1312-52dup | NP_113659.3:n.1311+53_1312-52dup | |
| NM_178443.2:c.1323+53_1324-52dup , LRG_180t1:c.1323+53_1324-52dup | NP_848537.1:n.1323+53_1324-52dup | |
| XM_011545294.1:c.1323+53_1324-52dup | XP_011543596.1:n.1323+53_1324-52dup | |
| XM_011545295.1:c.783+53_784-52dup | XP_011543597.1:n.783+53_784-52dup | |
| XM_011545296.1:c.783+53_784-52dup | XP_011543598.1:n.783+53_784-52dup | |
| XM_011545294.3:c.1323+53_1324-52dup | XP_011543596.1:n.1323+53_1324-52dup | |
| XM_011545295.2:c.783+53_784-52dup | XP_011543597.1:n.783+53_784-52dup | |
| XM_017018398.2:c.1311+53_1312-52dup | XP_016873887.1:n.1311+53_1312-52dup | |
| XM_017018399.1:c.771+53_772-52dup | XP_016873888.1:n.771+53_772-52dup | |
| NM_031471.6:c.1311+53_1312-52dup MANE Select | NP_113659.3:n.1311+53_1312-52dup | |
| NM_001382361.1:c.1311+53_1312-52dup | NP_001369290.1:n.1311+53_1312-52dup | |
| NM_001382362.1:c.1323+53_1324-52dup | NP_001369291.1:n.1323+53_1324-52dup | |
| NM_001382363.1:c.771+53_772-52dup | NP_001369292.1:n.771+53_772-52dup | |
| NM_001382364.1:c.783+53_784-52dup | NP_001369293.1:n.783+53_784-52dup | |
| NM_001382448.1:c.1311+53_1312-52dup | NP_001369377.1:n.1311+53_1312-52dup | |
| NM_178443.3:c.1323+53_1324-52dup | NP_848537.1:n.1323+53_1324-52dup |