Linked Data
ClinVar Variation Id:
1233405
ClinVar RCV Id:
RCV001617530
dbSNP Id:
rs1565883959
gnomAD v2:
12-25378225-TATATATATATATATA-T
gnomAD v3:
12-25225291-TATATATATATATATA-T
gnomAD v4:
12-25225291-TATATATATATATATA-T
MyVariant Identifiers:
chr12:g.25378226_25378250delinsTATATATATA (hg19)
chr12:g.25225292_25225316delinsTATATATATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25225292_25225306del , CM000674.2:g.25225292_25225306del | GRCh38 |
| NC_000012.11:g.25378226_25378240del , CM000674.1:g.25378226_25378240del | GRCh37 |
| NC_000012.10:g.25269493_25269507del | NCBI36 |
| NG_007524.1:g.30615_30629del | |
| NG_007524.2:g.30698_30712del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-15395_112-15381del | ENSP00000452512.1:n.112-15395_112-15381del | |
| ENST00000685328.1:c.450+308_450+322del | ENSP00000508921.1:n.450+308_450+322del | |
| ENST00000686877.1:c.*421+308_*421+322del | ENSP00000510431.1:n.*421+308_*421+322del | |
| ENST00000687356.1:c.*148+308_*148+322del | ENSP00000510511.1:n.*148+308_*148+322del | |
| ENST00000688228.1:n.924+308_924+322del | ||
| ENST00000688940.1:c.450+308_450+322del | ENSP00000509238.1:n.450+308_450+322del | |
| ENST00000690406.1:c.160+308_160+322del | ||
| ENST00000690804.1:c.*411+308_*411+322del | ENSP00000508568.1:n.*411+308_*411+322del | |
| ENST00000692768.1:c.252+308_252+322del | ENSP00000510254.1:n.252+308_252+322del | |
| ENST00000693229.1:c.375+308_375+322del | ENSP00000509223.1:n.375+308_375+322del | |
| ENST00000256078.10:c.450+308_450+322del MANE Plus Clinical | ENSP00000256078.5:n.450+308_450+322del | |
| ENST00000311936.8:c.450+308_450+322del MANE Select | ENSP00000308495.3:n.450+308_450+322del | |
| ENST00000256078.8:c.450+308_450+322del | ENSP00000256078.4:n.450+308_450+322del | |
| ENST00000311936.7:c.450+308_450+322del | ENSP00000308495.3:n.450+308_450+322del | |
| ENST00000557334.5:c.112-15395_112-15381del | ENSP00000452512.1:n.112-15395_112-15381del | |
| NM_004985.4:c.450+308_450+322del | NP_004976.2:n.450+308_450+322del | |
| NM_033360.3:c.450+308_450+322del | NP_203524.1:n.450+308_450+322del | |
| XM_006719069.2:c.450+308_450+322del | XP_006719132.1:n.450+308_450+322del | |
| XM_011520653.1:c.450+308_450+322del | XP_011518955.1:n.450+308_450+322del | |
| XM_006719069.4:c.450+308_450+322del | XP_006719132.1:n.450+308_450+322del | |
| XM_011520653.3:c.450+308_450+322del | XP_011518955.1:n.450+308_450+322del | |
| NM_001369786.1:c.450+308_450+322del | NP_001356715.1:n.450+308_450+322del | |
| NM_001369787.1:c.450+308_450+322del | NP_001356716.1:n.450+308_450+322del | |
| NM_004985.5:c.450+308_450+322del MANE Select | NP_004976.2:n.450+308_450+322del | |
| NM_033360.4:c.450+308_450+322del MANE Plus Clinical | NP_203524.1:n.450+308_450+322del |