Linked Data
dbSNP Id:
rs772277402
ExAC:
17:29283450 T / TGTCC
gnomAD v2:
17-29283450-T-TGTCC
gnomAD v4:
17-30956432-T-TGTCC
MyVariant Identifiers:
chr17:g.29283450_29283451insGTCC (hg19)
chr17:g.30956432_30956433insGTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30956433_30956436dup , CM000679.2:g.30956433_30956436dup | GRCh38 |
| NC_000017.10:g.29283451_29283454dup , CM000679.1:g.29283451_29283454dup | GRCh37 |
| NC_000017.9:g.26307577_26307580dup | NCBI36 |
| NG_051975.1:g.39698_39701dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330889.8:c.1075_1078dup MANE Select | ENSP00000329468.3:p.Leu360ArgfsTer27 | |
| ENST00000330889.7:c.1075_1078dup | ENSP00000329468.3:p.Leu360ArgfsTer27 | |
| ENST00000470962.1:n.495_498dup | ||
| ENST00000480980.1:n.509_512dup | ||
| ENST00000580525.5:c.1093_1096dup | ENSP00000464121.1:p.Leu366ArgfsTer27 | |
| ENST00000581285.5:c.991_994dup | ENSP00000464155.1:p.Leu332ArgfsTer? | |
| ENST00000584828.5:c.402+42_402+45dup | ||
| ENST00000585130.5:c.*674_*677dup | ENSP00000464120.1:n.*674_*677dup | |
| NM_018404.2:c.1075_1078dup | NP_060874.1:p.Leu360ArgfsTer27 | |
| XM_005258008.2:c.1093_1096dup | XP_005258065.1:p.Leu366ArgfsTer27 | |
| XM_005258011.2:c.1030_1033dup | XP_005258068.1:p.Leu345ArgfsTer27 | |
| XM_006721973.2:c.1051+42_1051+45dup | XP_006722036.1:n.1051+42_1051+45dup | |
| XM_011524993.1:c.1090_1093dup | XP_011523295.1:p.Leu365ArgfsTer27 | |
| XM_011524994.1:c.1072_1075dup | XP_011523296.1:p.Leu359ArgfsTer27 | |
| NM_001346712.1:c.1093_1096dup | NP_001333641.1:p.Leu366ArgfsTer27 | |
| NM_001346714.1:c.1072_1075dup | NP_001333643.1:p.Leu359ArgfsTer27 | |
| NM_001346716.1:c.1033+42_1033+45dup | NP_001333645.1:n.1033+42_1033+45dup | |
| NR_144488.1:n.1274_1277dup | ||
| XM_024450831.1:c.1075_1078dup | XP_024306599.1:p.Leu360ArgfsTer13 | |
| XM_024450832.1:c.1090_1093dup | XP_024306600.1:p.Leu365ArgfsTer27 | |
| XM_024450833.1:c.1030_1033dup | XP_024306601.1:p.Leu345ArgfsTer27 | |
| XM_024450834.1:c.1051+42_1051+45dup | XP_024306602.1:n.1051+42_1051+45dup | |
| XM_024450835.1:c.709_712dup | XP_024306603.1:p.Leu238ArgfsTer27 | |
| NM_018404.3:c.1075_1078dup MANE Select | NP_060874.1:p.Leu360ArgfsTer27 | |
| NM_001346712.2:c.1093_1096dup | NP_001333641.1:p.Leu366ArgfsTer27 | |
| NM_001346714.2:c.1072_1075dup | NP_001333643.1:p.Leu359ArgfsTer27 | |
| NM_001346716.2:c.1033+42_1033+45dup | NP_001333645.1:n.1033+42_1033+45dup | |
| NR_144488.2:n.1065_1068dup |