Linked Data
ClinVar Variation Id:
197507
dbSNP Id:
rs34646696
ExAC:
5:37139474 TA / T
gnomAD v2:
5-37139474-TA-T
gnomAD v3:
5-37139372-TA-T
gnomAD v4:
5-37139372-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37139382del , CM000667.2:g.37139382del | GRCh38 |
| NC_000005.9:g.37139484del , CM000667.1:g.37139484del | GRCh37 |
| NC_000005.8:g.37175241del | NCBI36 |
| NG_032772.1:g.115056del | |
| NG_032772.2:g.115056del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1632-3del | ||
| ENST00000651892.2:c.8633-3del MANE Select | ENSP00000498265.2:n.8633-3del | |
| ENST00000425232.6:c.8471-3del | ENSP00000389014.2:n.8471-3del | |
| ENST00000504716.1:n.215del | ||
| ENST00000505121.1:n.333-3del | ||
| ENST00000508244.5:c.8471-3del | ENSP00000421690.1:n.8471-3del | |
| ENST00000508405.1:n.365-525del | ||
| ENST00000509849.5:c.5645-525del | ENSP00000426337.1:n.5645-525del | |
| ENST00000509957.5:n.3811del | ||
| ENST00000512288.5:n.182-3del | ||
| ENST00000514429.5:c.5669-3del | ENSP00000424223.1:n.5669-3del | |
| NM_023073.3:c.8471-3del | NP_075561.3:n.8471-3del | |
| XM_005248345.2:c.8633-3del | XP_005248402.1:n.8633-3del | |
| XM_005248346.2:c.8630-3del | XP_005248403.1:n.8630-3del | |
| XM_005248347.2:c.8630-3del | XP_005248404.1:n.8630-3del | |
| XM_005248349.2:c.8522-3del | XP_005248406.1:n.8522-3del | |
| XM_005248350.2:c.8504-3del | XP_005248407.1:n.8504-3del | |
| XM_005248353.3:c.5276-3del | XP_005248410.1:n.5276-3del | |
| XM_006714489.2:c.8633-3del | XP_006714552.1:n.8633-3del | |
| XM_006714491.2:c.3206-3del | XP_006714554.1:n.3206-3del | |
| XM_011514085.1:c.8633-3del | XP_011512387.1:n.8633-3del | |
| XM_011514086.1:c.8633-3del | XP_011512388.1:n.8633-3del | |
| XM_011514087.1:c.8579-3del | XP_011512389.1:n.8579-3del | |
| XM_011514088.1:c.8525-3del | XP_011512390.1:n.8525-3del | |
| XM_011514089.1:c.8633-3del | XP_011512391.1:n.8633-3del | |
| XM_011514090.1:c.8315-3del | XP_011512392.1:n.8315-3del | |
| XM_011514091.1:c.7961-3del | XP_011512393.1:n.7961-3del | |
| XM_011514092.1:c.8633-3del | XP_011512394.1:n.8633-3del | |
| XM_011514094.1:c.5858-3del | XP_011512396.1:n.5858-3del | |
| XR_427661.2:n.8808-3del | ||
| XR_925644.1:n.8808-3del | ||
| XM_005248345.4:c.8633-3del | XP_005248402.1:n.8633-3del | |
| XM_005248346.4:c.8630-3del | XP_005248403.1:n.8630-3del | |
| XM_005248347.4:c.8630-3del | XP_005248404.1:n.8630-3del | |
| XM_005248349.4:c.8522-3del | XP_005248406.1:n.8522-3del | |
| XM_005248350.4:c.8504-3del | XP_005248407.1:n.8504-3del | |
| XM_006714491.3:c.3206-3del | XP_006714554.1:n.3206-3del | |
| XM_011514085.3:c.8633-3del | XP_011512387.1:n.8633-3del | |
| XM_011514086.3:c.8633-3del | XP_011512388.1:n.8633-3del | |
| XM_011514087.2:c.8579-3del | XP_011512389.1:n.8579-3del | |
| XM_011514088.2:c.8525-3del | XP_011512390.1:n.8525-3del | |
| XM_011514089.2:c.8633-3del | XP_011512391.1:n.8633-3del | |
| XM_011514090.3:c.8315-3del | XP_011512392.1:n.8315-3del | |
| XM_011514092.2:c.8633-3del | XP_011512394.1:n.8633-3del | |
| XM_011514094.2:c.5858-3del | XP_011512396.1:n.5858-3del | |
| XM_017009760.1:c.8444-3del | XP_016865249.1:n.8444-3del | |
| XM_017009761.2:c.8444-3del | XP_016865250.1:n.8444-3del | |
| XM_017009763.1:c.7640-3del | XP_016865252.1:n.7640-3del | |
| XM_017009765.1:c.7445-3del | XP_016865254.1:n.7445-3del | |
| XM_017009766.1:c.5276-3del | XP_016865255.1:n.5276-3del | |
| XM_024446183.1:c.8444-3del | XP_024301951.1:n.8444-3del | |
| XM_024446184.1:c.8315-3del | XP_024301952.1:n.8315-3del | |
| XM_024446185.1:c.7961-3del | XP_024301953.1:n.7961-3del | |
| XM_024446186.1:c.7640-3del | XP_024301954.1:n.7640-3del | |
| XR_001742208.1:n.8802-3del | ||
| XR_925644.2:n.8857-3del | ||
| NM_001384732.1:c.8633-3del MANE Select | NP_001371661.1:n.8633-3del | |
| NM_023073.4:c.8471-3del | NP_075561.3:n.8471-3del |