Linked Data
ClinVar Variation Id:
21500
ClinVar RCV Id:
RCV000020689
dbSNP Id:
rs80356752
gnomAD v4:
12-123724711-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123724712_123724713del , CM000674.2:g.123724712_123724713del | GRCh38 |
| NC_000012.11:g.124209259_124209260del , CM000674.1:g.124209259_124209260del | GRCh37 |
| NC_000012.10:g.122775212_122775213del | NCBI36 |
| NG_012743.1:g.17395_17396del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330342.8:c.353_354del MANE Select | ENSP00000332247.2:p.Leu118GlnfsTer26 | |
| ENST00000540368.6:n.384_385del | ||
| ENST00000613625.5:c.353_354del | ENSP00000482236.1:p.Leu118GlnfsTer26 | |
| ENST00000675344.1:c.353_354del | ENSP00000501953.1:p.Leu118GlnfsTer26 | |
| ENST00000330342.7:c.353_354del | ENSP00000332247.2:p.Leu118GlnfsTer26 | |
| ENST00000504192.2:c.-38_-37del | ENSP00000443441.1:n.-38_-37del | |
| ENST00000540368.5:n.563_564del | ||
| ENST00000613625.4:c.353_354del | ENSP00000482236.1:p.Leu118GlnfsTer26 | |
| NM_012463.3:c.353_354del | NP_036595.2:p.Leu118GlnfsTer26 | |
| XM_005253563.1:c.353_354del | XP_005253620.1:p.Leu118GlnfsTer26 | |
| XM_006719317.2:c.-72_-71del | XP_006719380.1:n.-72_-71del | |
| XR_429088.1:n.516_517del | ||
| XM_024448910.1:c.353_354del | XP_024304678.1:p.Leu118GlnfsTer26 | |
| XM_024448911.1:c.-72_-71del | XP_024304679.1:n.-72_-71del | |
| NM_012463.4:c.353_354del MANE Select | NP_036595.2:p.Leu118GlnfsTer26 |