Linked Data
ClinVar Variation Id:
434007
dbSNP Id:
rs1555444468
gnomAD v4:
16-2090335-ACTC-A
PubMed:
PMID:26453610
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2090337_2090339del , CM000678.2:g.2090337_2090339del | GRCh38 |
| NC_000016.9:g.2140338_2140340del , CM000678.1:g.2140338_2140340del | GRCh37 |
| NC_000016.8:g.2080339_2080341del | NCBI36 |
| NG_005895.1:g.46032_46034del , LRG_487:g.46032_46034del | |
| NG_008617.1:g.52883_52885del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.12391_12393del MANE Select | ENSP00000262304.4:p.Glu4131del | |
| ENST00000262304.8:c.12391_12393del | ENSP00000262304.4:p.Glu4131del | |
| ENST00000423118.5:c.12388_12390del | ENSP00000399501.1:p.Glu4130del | |
| ENST00000472577.1:n.419_421del | ||
| NM_000296.3:c.12388_12390del | NP_000287.3:p.Glu4130del | |
| NM_001009944.2:c.12391_12393del | NP_001009944.2:p.Glu4131del | |
| XM_005255370.2:c.9346_9348del | XP_005255427.1:p.Glu3116del | |
| XM_011522525.1:c.12469_12471del | XP_011520827.1:p.Glu4157del | |
| XM_011522526.1:c.12466_12468del | XP_011520828.1:p.Glu4156del | |
| XM_011522527.1:c.12451_12453del | XP_011520829.1:p.Glu4151del | |
| XM_011522528.1:c.12445_12447del | XP_011520830.1:p.Glu4149del | |
| XM_011522529.1:c.12442_12444del | XP_011520831.1:p.Glu4148del | |
| XM_011522530.1:c.12415_12417del | XP_011520832.1:p.Glu4139del | |
| XM_011522531.1:c.12397_12399del | XP_011520833.1:p.Glu4133del | |
| XM_011522532.1:c.12343_12345del | XP_011520834.1:p.Glu4115del | |
| XM_011522533.1:c.12262_12264del | XP_011520835.1:p.Glu4088del | |
| XM_011522534.1:c.12205_12207del | XP_011520836.1:p.Glu4069del | |
| XM_011522535.1:c.10291_10293del | XP_011520837.1:p.Glu3431del | |
| XM_011522537.1:c.9469_9471del | XP_011520839.1:p.Glu3157del | |
| XR_932867.1:n.12309_12311del | ||
| XM_005255370.3:c.9346_9348del | XP_005255427.1:p.Glu3116del | |
| XM_011522528.3:c.12445_12447del | XP_011520830.1:p.Glu4149del | |
| XM_011522529.2:c.12442_12444del | XP_011520831.1:p.Glu4148del | |
| XM_011522537.2:c.9469_9471del | XP_011520839.1:p.Glu3157del | |
| XM_024450298.1:c.12511_12513del | XP_024306066.1:p.Glu4171del | |
| XM_024450299.1:c.12439_12441del | XP_024306067.1:p.Glu4147del | |
| XM_024450300.1:c.12301_12303del | XP_024306068.1:p.Glu4101del | |
| XM_024450301.1:c.10387_10389del | XP_024306069.1:p.Glu3463del | |
| NM_000296.4:c.12388_12390del | NP_000287.4:p.Glu4130del | |
| NM_001009944.3:c.12391_12393del MANE Select | NP_001009944.3:p.Glu4131del |