Linked Data
ClinVar Variation Id:
1575826
ClinVar RCV Id:
RCV002254762
dbSNP Id:
rs755385213
ExAC:
12:56397388 TTCC / T
gnomAD v2:
12-56397388-TTCC-T
gnomAD v4:
12-56003604-TTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56003605_56003607del , CM000674.2:g.56003605_56003607del | GRCh38 |
| NC_000012.11:g.56397389_56397391del , CM000674.1:g.56397389_56397391del | GRCh37 |
| NC_000012.10:g.54683656_54683658del | NCBI36 |
| NG_008136.1:g.11347_11349del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266971.8:c.229-13_229-11del MANE Select | ENSP00000266971.3:n.229-13_229-11del | |
| ENST00000266971.7:c.229-13_229-11del | ENSP00000266971.3:n.229-13_229-11del | |
| ENST00000356124.8:c.229-13_229-11del | ENSP00000348440.4:n.229-13_229-11del | |
| ENST00000394109.7:c.229-13_229-11del | ENSP00000377668.3:n.229-13_229-11del | |
| ENST00000394115.6:c.229-13_229-11del | ENSP00000377674.2:n.229-13_229-11del | |
| ENST00000546712.1:n.720-13_720-11del | ||
| ENST00000546833.5:c.229-13_229-11del | ENSP00000449872.1:n.229-13_229-11del | |
| ENST00000548274.5:c.229-13_229-11del | ENSP00000450245.1:n.229-13_229-11del | |
| ENST00000550065.1:c.229-13_229-11del | ENSP00000450264.1:n.229-13_229-11del | |
| ENST00000550340.5:n.114-13_114-11del | ||
| ENST00000550478.5:n.308-13_308-11del | ||
| ENST00000551698.5:n.251-13_251-11del | ||
| ENST00000551841.6:c.229-13_229-11del | ENSP00000449443.1:n.229-13_229-11del | |
| ENST00000552258.5:c.229-13_229-11del | ENSP00000450049.1:n.229-13_229-11del | |
| ENST00000552363.5:n.82-13_82-11del | ||
| NM_000456.2:c.229-13_229-11del | NP_000447.2:n.229-13_229-11del | |
| NM_001032386.1:c.229-13_229-11del | NP_001027558.1:n.229-13_229-11del | |
| NM_001032387.1:c.229-13_229-11del | NP_001027559.1:n.229-13_229-11del | |
| XM_005269112.1:c.250-13_250-11del | XP_005269169.1:n.250-13_250-11del | |
| XM_017019905.2:c.250-13_250-11del | XP_016875394.1:n.250-13_250-11del | |
| XM_017019906.1:c.250-13_250-11del | XP_016875395.1:n.250-13_250-11del | |
| XM_017019907.2:c.229-13_229-11del | XP_016875396.1:n.229-13_229-11del | |
| XM_017019908.1:c.229-13_229-11del | XP_016875397.1:n.229-13_229-11del | |
| XM_024449167.1:c.250-13_250-11del | XP_024304935.1:n.250-13_250-11del | |
| NM_001032386.2:c.229-13_229-11del MANE Select | NP_001027558.1:n.229-13_229-11del | |
| NM_000456.3:c.229-13_229-11del | NP_000447.2:n.229-13_229-11del | |
| NM_001032387.2:c.229-13_229-11del | NP_001027559.1:n.229-13_229-11del |