Linked Data
ClinVar Variation Id:
593494
ClinVar RCV Id:
RCV000728551
dbSNP Id:
rs762291612
ExAC:
10:101595902 TCC / T
gnomAD v2:
10-101595902-TCC-T
gnomAD v3:
10-99836145-TCC-T
gnomAD v4:
10-99836145-TCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836148_99836149del , CM000672.2:g.99836148_99836149del | GRCh38 |
| NC_000010.10:g.101595905_101595906del , CM000672.1:g.101595905_101595906del | GRCh37 |
| NC_000010.9:g.101585895_101585896del | NCBI36 |
| NG_011798.1:g.58443_58444del | |
| NG_011798.2:g.58551_58552del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3472_3473del MANE Select | ENSP00000497274.1:p.Pro1158AsnfsTer19 | |
| ENST00000370449.8:c.3472_3473del | ENSP00000359478.4:p.Pro1158AsnfsTer19 | |
| NM_000392.4:c.3472_3473del | NP_000383.1:p.Pro1158AsnfsTer19 | |
| XM_006717630.2:c.2776_2777del | XP_006717693.1:p.Pro926AsnfsTer19 | |
| XR_945604.1:n.3661_3662del | ||
| XR_945605.1:n.3663_3664del | ||
| NM_000392.5:c.3472_3473del MANE Select | NP_000383.2:p.Pro1158AsnfsTer19 | |
| XM_006717630.3:c.2776_2777del | XP_006717693.1:p.Pro926AsnfsTer19 | |
| XR_945604.3:n.3715_3716del | ||
| XR_945605.3:n.3715_3716del |