Linked Data
ClinVar Variation Id:
371124
ClinVar RCV Id:
RCV000411789
dbSNP Id:
rs1057517026
gnomAD v4:
9-37428515-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37428520_37428521del , CM000671.2:g.37428520_37428521del | GRCh38 |
| NC_000009.11:g.37428517_37428518del , CM000671.1:g.37428517_37428518del | GRCh37 |
| NC_000009.10:g.37418517_37418518del | NCBI36 |
| NG_008135.1:g.10811_10812del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318158.11:c.441_442del MANE Select | ENSP00000313432.6:p.Cys147TrpfsTer? | |
| ENST00000318158.10:c.441_442del | ENSP00000313432.6:p.Cys147TrpfsTer? | |
| ENST00000377824.8:n.478_479del | ||
| ENST00000460882.5:n.468_469del | ||
| ENST00000491488.5:n.146_147del | ||
| ENST00000493368.5:n.498_499del | ||
| ENST00000497693.1:n.815_816del | ||
| ENST00000607784.1:c.441_442del | ENSP00000475569.1:p.Cys147TrpfsTer? | |
| NM_012203.1:c.441_442del | NP_036335.1:p.Cys147TrpfsTer? | |
| XM_005251631.1:c.120_121del | XP_005251688.1:p.Cys40TrpfsTer? | |
| XM_011518073.1:c.-322_-321del | XP_011516375.1:n.-322_-321del | |
| XR_929374.1:n.526_527del | ||
| XM_017015320.2:c.441_442del | XP_016870809.1:p.Cys147TrpfsTer? | |
| XM_017015321.2:c.441_442del | XP_016870810.1:p.Cys147TrpfsTer? | |
| XM_017015323.2:c.-322_-321del | XP_016870812.1:n.-322_-321del | |
| XM_024447716.1:c.714_715del | XP_024303484.1:p.Cys238TrpfsTer? | |
| XM_024447717.1:c.714_715del | XP_024303485.1:p.Cys238TrpfsTer? | |
| XR_002956828.1:n.729_730del | ||
| XR_002956829.1:n.729_730del | ||
| XR_002956830.1:n.500_501del | ||
| XR_002956831.1:n.175_176del | ||
| XR_002956832.1:n.500_501del | ||
| NM_012203.2:c.441_442del MANE Select | NP_036335.1:p.Cys147TrpfsTer? |