Linked Data
ClinVar Variation Id:
37895
dbSNP Id:
rs80359442
ExAC:
13:32900240 CTGT / C
gnomAD v2:
13-32900240-CTGT-C
gnomAD v3:
13-32326103-CTGT-C
gnomAD v4:
13-32326103-CTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32326108_32326110del , CM000675.2:g.32326108_32326110del | GRCh38 |
| NC_000013.10:g.32900245_32900247del , CM000675.1:g.32900245_32900247del | GRCh37 |
| NC_000013.9:g.31798245_31798247del | NCBI36 |
| NG_012772.3:g.15629_15631del , LRG_293:g.15629_15631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.433_435del | ENSP00000434898.2:p.Val145del | |
| ENST00000528762.2:c.433_435del | ENSP00000433168.2:p.Val145del | |
| ENST00000530893.7:c.64_66del | ENSP00000499438.2:p.Val22del | |
| ENST00000665585.2:c.433_435del | ENSP00000499570.2:p.Val145del | |
| ENST00000666593.2:c.433_435del | ENSP00000499256.2:p.Val145del | |
| ENST00000700202.2:c.433_435del | ENSP00000514856.2:p.Val145del | |
| ENST00000700200.1:n.304_306del | ||
| ENST00000700201.1:c.*212_*214del | ENSP00000514855.1:n.*212_*214del | |
| ENST00000380152.8:c.433_435del MANE Select | ENSP00000369497.3:p.Val145del | |
| ENST00000544455.6:c.433_435del | ENSP00000439902.1:p.Val145del | |
| ENST00000614259.2:c.433_435del | ENSP00000506251.1:p.Val145del | |
| ENST00000680887.1:c.433_435del | ENSP00000505508.1:p.Val145del | |
| ENST00000380152.7:c.433_435del | ENSP00000369497.3:p.Val145del | |
| ENST00000530893.6:n.631_633del | ||
| ENST00000544455.5:c.433_435del | ENSP00000439902.1:p.Val145del | |
| ENST00000614259.1:n.433_435del | ||
| NM_000059.3:c.433_435del , LRG_293t1:c.433_435del | NP_000050.2:p.Val145del | |
| XM_011535203.1:c.433_435del | XP_011533505.1:p.Val145del | |
| XM_011535204.1:c.433_435del | XP_011533506.1:p.Val145del | |
| XM_011535205.1:c.433_435del | XP_011533507.1:p.Val145del | |
| NM_000059.4:c.433_435del MANE Select | NP_000050.3:p.Val145del |