Linked Data
ClinVar Variation Id:
540087
ClinVar RCV Id:
RCV000650022
dbSNP Id:
rs776064587
gnomAD v2:
4-39466903-AGATATGCCT-A
gnomAD v4:
4-39465283-AGATATGCCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39465287_39465295del , CM000666.2:g.39465287_39465295del | GRCh38 |
| NC_000004.11:g.39466907_39466915del , CM000666.1:g.39466907_39466915del | GRCh37 |
| NC_000004.10:g.39143302_39143310del | NCBI36 |
| NG_032111.1:g.11243_11251del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261434.8:c.299+1682_299+1690del | ENSP00000261434.4:n.299+1682_299+1690del | |
| ENST00000340169.7:c.553_561del | ||
| ENST00000381846.2:c.553_561del | ||
| ENST00000513731.6:c.219-2231_219-2223del | ENSP00000425580.1:n.219-2231_219-2223del | |
| ENST00000638422.1:c.553_561del | ||
| ENST00000638430.1:c.250_258del | ||
| ENST00000638451.1:c.299+1682_299+1690del | ENSP00000491681.1:n.299+1682_299+1690del | |
| ENST00000638816.1:c.267_275del | ||
| ENST00000638837.1:c.*156_*164del | ||
| ENST00000639422.1:c.393+1682_393+1690del | ENSP00000491899.1:n.393+1682_393+1690del | |
| ENST00000640349.1:c.394-730_394-722del | ENSP00000491477.1:n.394-730_394-722del | |
| ENST00000640381.1:n.613_621del | ||
| ENST00000640672.1:c.313_321del | ||
| ENST00000640689.1:c.*156_*164del | ||
| ENST00000640888.2:c.553_561del | ||
| ENST00000261434.7:c.553_561del | ||
| ENST00000340169.6:c.553_561del | ||
| ENST00000381846.1:c.553_561del | ||
| ENST00000513731.5:c.219-2231_219-2223del | ENSP00000425580.1:n.219-2231_219-2223del | |
| ENST00000515061.1:n.551_559del | ||
| NM_001278590.1:c.553_561del | ||
| NM_006859.3:c.553_561del | ||
| NM_194451.2:c.553_561del | ||
| XM_006713990.2:c.299+1682_299+1690del | XP_006714053.1:n.299+1682_299+1690del | |
| NM_001363700.1:c.299+1682_299+1690del | NP_001350629.1:n.299+1682_299+1690del | |
| XM_006713990.3:c.299+1682_299+1690del | XP_006714053.1:n.299+1682_299+1690del | |
| XM_017007665.2:c.553_561del | ||
| XR_001741096.2:n.641_649del | ||
| NM_001278590.2:c.553_561del | ||
| NM_001363700.2:c.299+1682_299+1690del | NP_001350629.1:n.299+1682_299+1690del | |
| NM_006859.4:c.553_561del | ||
| NM_194451.3:c.553_561del |