Linked Data
ClinVar Variation Id:
422015
dbSNP Id:
rs778664924
ExAC:
17:4858741 AC / A
gnomAD v2:
17-4858741-AC-A
gnomAD v3:
17-4955446-AC-A
gnomAD v4:
17-4955446-AC-A
MyVariant Identifiers:
chr17:g.4858744del (hg19)
chr17:g.4858742del (hg19)
chr17:g.4955449del (hg38)
chr17:g.4955447del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955449del , CM000679.2:g.4955449del | GRCh38 |
| NC_000017.10:g.4858744del , CM000679.1:g.4858744del | GRCh37 |
| NC_000017.9:g.4799490del | NCBI36 |
| NG_012063.2:g.14359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.710del MANE Select | ENSP00000430055.2:p.Pro237GlnfsTer5 | |
| ENST00000323997.10:c.710del | ENSP00000324105.6:p.Pro237GlnfsTer5 | |
| ENST00000518175.1:c.710del | ENSP00000431087.1:p.Pro237GlnfsTer5 | |
| ENST00000519584.5:c.581del | ENSP00000430636.1:p.Pro194GlnfsTer5 | |
| ENST00000519602.5:c.710del | ENSP00000430055.1:p.Pro237GlnfsTer5 | |
| ENST00000521659.5:c.*656del | ENSP00000430554.1:n.*656del | |
| NM_001193503.1:c.581del | NP_001180432.1:p.Pro194GlnfsTer5 | |
| NM_001976.4:c.710del | NP_001967.3:p.Pro237GlnfsTer5 | |
| NM_053013.3:c.710del | NP_443739.3:p.Pro237GlnfsTer5 | |
| XM_005256521.2:c.737del | XP_005256578.1:p.Pro246GlnfsTer5 | |
| XM_011523729.1:c.710del | XP_011522031.1:p.Pro237GlnfsTer5 | |
| XM_017024346.2:c.710del | XP_016879835.1:p.Pro237GlnfsTer5 | |
| NM_001193503.2:c.581del | NP_001180432.1:p.Pro194GlnfsTer5 | |
| NM_001374523.1:c.710del | NP_001361452.1:p.Pro237GlnfsTer5 | |
| NM_001374524.1:c.737del | NP_001361453.1:p.Pro246GlnfsTer5 | |
| NM_001976.5:c.710del | NP_001967.3:p.Pro237GlnfsTer5 | |
| NM_053013.4:c.710del MANE Select | NP_443739.3:p.Pro237GlnfsTer5 |