Linked Data
ClinVar Variation Id:
371117
dbSNP Id:
rs1057517021
gnomAD v3:
19-35845680-CT-C
gnomAD v4:
19-35845680-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35845682del , CM000681.2:g.35845682del | GRCh38 |
| NC_000019.9:g.36336584del , CM000681.1:g.36336584del | GRCh37 |
| NC_000019.8:g.41028424del | NCBI36 |
| NG_013356.2:g.28607del , LRG_693:g.28607del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.1745del MANE Select | ENSP00000368190.4:p.Lys582ArgfsTer? | |
| ENST00000353632.6:c.1745del | ENSP00000343634.5:p.Lys582ArgfsTer? | |
| ENST00000378910.9:c.1745del | ENSP00000368190.4:p.Lys582ArgfsTer? | |
| NM_004646.3:c.1745del , LRG_693t1:c.1745del | NP_004637.1:p.Lys582ArgfsTer? | |
| NM_004646.4:c.1745del MANE Select | NP_004637.1:p.Lys582ArgfsTer? |