Linked Data
dbSNP Id:
rs376806238
ExAC:
6:29912395 T / TGG
gnomAD v2:
6-29912395-T-TGG
gnomAD v3:
6-29944618-T-TGG
gnomAD v4:
6-29944618-T-TGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29944619_29944620dup , CM000668.2:g.29944619_29944620dup | GRCh38 |
| NC_000006.11:g.29912396_29912397dup , CM000668.1:g.29912396_29912397dup | GRCh37 |
| NC_000006.10:g.30020375_30020376dup | NCBI36 |
| NG_029217.2:g.7155_7156dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.895+222_895+223dup | ENSP00000492789.2:n.895+222_895+223dup | |
| ENST00000706892.1:n.1971_1972dup | ||
| ENST00000706893.1:c.1049_1050dup | ENSP00000516609.1:p.Arg351GlyfsTer? | |
| ENST00000706894.1:c.1012+3_1012+4dup | ENSP00000516610.1:n.1012+3_1012+4dup | |
| ENST00000706895.1:n.1393_1394dup | ||
| ENST00000706896.1:n.1869_1870dup | ||
| ENST00000706897.1:n.1291_1292dup | ||
| ENST00000706898.1:c.1015_1016dup | ENSP00000516611.1:p.Gly341LysfsTer3 | |
| ENST00000706899.1:n.1866+3_1866+4dup | ||
| ENST00000706900.1:c.928+3_928+4dup | ENSP00000516617.1:n.928+3_928+4dup | |
| ENST00000706901.1:c.1012+3_1012+4dup | ENSP00000516612.1:n.1012+3_1012+4dup | |
| ENST00000706902.1:c.1012+3_1012+4dup | ENSP00000516613.1:n.1012+3_1012+4dup | |
| ENST00000706903.1:c.1012+3_1012+4dup | ENSP00000516614.1:n.1012+3_1012+4dup | |
| ENST00000706904.1:c.1012+3_1012+4dup | ENSP00000516615.1:n.1012+3_1012+4dup | |
| ENST00000706905.1:c.1012+3_1012+4dup | ENSP00000516616.1:n.1012+3_1012+4dup | |
| ENST00000376809.10:c.1012+3_1012+4dup MANE Select | ENSP00000366005.5:n.1012+3_1012+4dup | |
| ENST00000638375.1:c.895+222_895+223dup | ENSP00000492789.1:n.895+222_895+223dup | |
| ENST00000376802.2:c.895+222_895+223dup | ENSP00000365998.2:n.895+222_895+223dup | |
| ENST00000376806.9:c.1015_1016dup | ENSP00000366002.5:p.Gly341LysfsTer3 | |
| ENST00000376809.9:c.1012+3_1012+4dup | ENSP00000366005.5:n.1012+3_1012+4dup | |
| ENST00000396634.5:c.1012+3_1012+4dup | ENSP00000379873.1:n.1012+3_1012+4dup | |
| ENST00000461903.1:n.1256_1257dup | ||
| ENST00000479320.5:n.1253+3_1253+4dup | ||
| ENST00000495183.5:n.1255+3_1255+4dup | ||
| ENST00000496081.5:n.832_833dup | ||
| NM_002116.7:c.1012+3_1012+4dup | NP_002107.3:n.1012+3_1012+4dup | |
| NM_002116.8:c.1012+3_1012+4dup MANE Select | NP_002107.3:n.1012+3_1012+4dup |