Linked Data
ClinVar Variation Id:
41412
ClinVar RCV Id:
RCV000034314
dbSNP Id:
rs786205123
ExAC:
1:40735754 CTA / C
gnomAD v2:
1-40735754-CTA-C
gnomAD v4:
1-40270082-CTA-C
MyVariant Identifiers:
chr1:g.40735756_40735757del (hg19)
chr1:g.40735755_40735756del (hg19)
chr1:g.40270084_40270085del (hg38)
chr1:g.40270083_40270084del (hg38)
PubMed:
PMID:20101687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40270084_40270085del , CM000663.2:g.40270084_40270085del | GRCh38 |
| NC_000001.10:g.40735756_40735757del , CM000663.1:g.40735756_40735757del | GRCh37 |
| NC_000001.9:g.40508343_40508344del | NCBI36 |
| NG_008695.1:g.17024_17025del , LRG_212:g.17024_17025del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372759.4:c.584_585del MANE Select | ENSP00000361845.3:p.Tyr195PhefsTer22 | |
| ENST00000674703.1:c.*425_*426del | ENSP00000501674.1:n.*425_*426del | |
| ENST00000675754.1:c.*326_*327del | ENSP00000502555.1:n.*326_*327del | |
| ENST00000675937.1:c.584_585del | ENSP00000502683.1:p.Tyr195PhefsTer22 | |
| ENST00000372759.3:c.584_585del | ENSP00000361845.3:p.Tyr195PhefsTer22 | |
| NM_005857.4:c.584_585del | NP_005848.2:p.Tyr195PhefsTer22 | |
| XM_011540486.1:c.335_336del | XP_011538788.1:p.Tyr112PhefsTer22 | |
| XM_011540487.1:c.584_585del | XP_011538789.1:p.Tyr195PhefsTer22 | |
| XR_001736906.2:n.778_779del | ||
| NM_005857.5:c.584_585del MANE Select | NP_005848.2:p.Tyr195PhefsTer22 |