Linked Data
ClinVar Variation Id:
374248
ClinVar RCV Id:
RCV000414768
dbSNP Id:
rs1057519009
MyVariant Identifiers:
chr6:g.157502253_157502254dupAA (hg19)
chr6:g.157181119_157181120dupAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157181119_157181120dup , CM000668.2:g.157181119_157181120dup | GRCh38 |
| NC_000006.11:g.157502253_157502254dup , CM000668.1:g.157502253_157502254dup | GRCh37 |
| NC_000006.10:g.157543945_157543946dup | NCBI36 |
| NG_032093.1:g.408190_408191dup | |
| NG_032093.2:g.408190_408191dup | |
| NG_066624.1:g.410094_410095dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350026.11:c.3496_3497dup | ENSP00000055163.8:p.Pro1167SerfsTer? | |
| ENST00000414678.8:c.3565_3566dup | ENSP00000412835.3:p.Pro1190SerfsTer? | |
| ENST00000637015.2:c.3784_3785dup | ENSP00000489729.2:p.Pro1263SerfsTer? | |
| ENST00000319584.11:c.1669_1670dup | ENSP00000313006.7:p.Pro558SerfsTer? | |
| ENST00000346085.10:c.3535_3536dup | ENSP00000344546.5:p.Pro1180SerfsTer? | |
| ENST00000350026.10:c.3247_3248dup | ENSP00000055163.7:p.Pro1084SerfsTer? | |
| ENST00000414678.7:c.1813_1814dup | ENSP00000412835.2:p.Pro606SerfsTer? | |
| ENST00000635849.1:c.976_977dup | ENSP00000490948.1:p.Pro327SerfsTer? | |
| ENST00000635957.1:c.610_611dup | ENSP00000490385.1:p.Pro205SerfsTer? | |
| ENST00000636930.2:c.3655_3656dup MANE Select | ENSP00000490491.2:p.Pro1220SerfsTer? | |
| ENST00000636940.1:n.1652_1653dup | ||
| ENST00000637015.1:c.1023_1024dup | ||
| ENST00000637568.1:c.937_938dup | ||
| ENST00000637741.1:n.321_322dup | ||
| ENST00000637810.1:c.997_998dup | ENSP00000489636.1:p.Pro334SerfsTer? | |
| ENST00000637904.1:c.1156_1157dup | ENSP00000490550.1:p.Pro387SerfsTer? | |
| ENST00000647938.1:c.3286_3287dup | ENSP00000498155.1:p.Pro1097SerfsTer? | |
| ENST00000319584.10:c.1672_1673dup | ENSP00000313006.6:p.Pro559SerfsTer? | |
| ENST00000346085.9:c.3286_3287dup | ENSP00000344546.4:p.Pro1097SerfsTer? | |
| ENST00000350026.9:c.3247_3248dup | ENSP00000055163.7:p.Pro1084SerfsTer? | |
| ENST00000400790.3:c.448_449dup | ENSP00000383596.3:p.Pro151SerfsTer? | |
| ENST00000414678.6:c.1813_1814dup | ENSP00000412835.2:p.Pro606SerfsTer? | |
| ENST00000478761.3:c.857_858dup | ||
| NM_017519.2:c.3247_3248dup | NP_059989.2:p.Pro1084SerfsTer? | |
| NM_020732.3:c.3286_3287dup | NP_065783.3:p.Pro1097SerfsTer? | |
| XM_005267069.3:c.3406_3407dup | XP_005267126.2:p.Pro1137SerfsTer? | |
| XM_011535984.1:c.2485_2486dup | XP_011534286.1:p.Pro830SerfsTer? | |
| XM_011535985.1:c.2305_2306dup | XP_011534287.1:p.Pro770SerfsTer? | |
| XM_011535986.1:c.2065_2066dup | XP_011534288.1:p.Pro690SerfsTer? | |
| XM_011535987.1:c.1684_1685dup | XP_011534289.1:p.Pro563SerfsTer? | |
| XM_011535988.1:c.547_548dup | XP_011534290.1:p.Pro184SerfsTer? | |
| NM_001346813.1:c.3406_3407dup | NP_001333742.1:p.Pro1137SerfsTer? | |
| NM_001363725.1:c.1156_1157dup | NP_001350654.1:p.Pro387SerfsTer? | |
| XM_011535984.2:c.3616_3617dup | XP_011534286.2:p.Pro1207SerfsTer? | |
| XM_011535988.3:c.547_548dup | XP_011534290.1:p.Pro184SerfsTer? | |
| XM_017011103.2:c.3517_3518dup | XP_016866592.1:p.Pro1174SerfsTer? | |
| XM_017011104.1:c.3487_3488dup | XP_016866593.1:p.Pro1164SerfsTer? | |
| XM_017011105.2:c.3457_3458dup | XP_016866594.1:p.Pro1154SerfsTer? | |
| XM_017011106.2:c.3328_3329dup | XP_016866595.1:p.Pro1111SerfsTer? | |
| XM_017011107.2:c.3307_3308dup | XP_016866596.1:p.Pro1104SerfsTer? | |
| XR_002956289.1:n.3699_3700dup | ||
| NM_001363725.2:c.1156_1157dup | NP_001350654.1:p.Pro387SerfsTer? | |
| NM_001371656.1:c.3535_3536dup | NP_001358585.1:p.Pro1180SerfsTer? | |
| NM_001374820.1:c.3535_3536dup | NP_001361749.1:p.Pro1180SerfsTer? | |
| NM_001374828.1:c.3655_3656dup MANE Select | NP_001361757.1:p.Pro1220SerfsTer? | |
| NM_017519.3:c.3496_3497dup | NP_059989.3:p.Pro1167SerfsTer? |