Linked Data
ClinVar Variation Id:
454761
ClinVar RCV Id:
RCV000557562
dbSNP Id:
rs1554090622
gnomAD v2:
5-13885308-AG-A
gnomAD v4:
5-13885199-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13885201del , CM000667.2:g.13885201del | GRCh38 |
| NC_000005.9:g.13885310del , CM000667.1:g.13885310del | GRCh37 |
| NC_000005.8:g.13938310del | NCBI36 |
| NG_013081.1:g.64281del | |
| NG_013081.2:g.64281del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.2772del MANE Select | ENSP00000265104.4:p.Leu925Ter | |
| ENST00000681290.1:c.2727del | ENSP00000505288.1:p.Leu910Ter | |
| ENST00000265104.4:c.2772del | ENSP00000265104.4:p.Leu925Ter | |
| NM_001369.2:c.2772del | NP_001360.1:p.Leu925Ter | |
| XM_005248262.2:c.2727del | XP_005248319.1:p.Leu910Ter | |
| XM_011513990.1:c.2772del | XP_011512292.1:p.Leu925Ter | |
| XR_925598.1:n.2979del | ||
| XM_005248262.3:c.2880del | XP_005248319.2:p.Leu961Ter | |
| XM_017009177.1:c.2880del | XP_016864666.1:p.Leu961Ter | |
| XM_017009178.1:c.1785del | XP_016864667.1:p.Leu596Ter | |
| XM_017009179.2:c.1785del | XP_016864668.1:p.Leu596Ter | |
| XM_017009180.1:c.2880del | XP_016864669.1:p.Leu961Ter | |
| XM_017009181.1:c.2880del | XP_016864670.1:p.Leu961Ter | |
| XM_017009182.1:c.2880del | XP_016864671.1:p.Leu961Ter | |
| XM_017009183.1:c.2880del | XP_016864672.1:p.Leu961Ter | |
| XM_017009184.1:c.2880del | XP_016864673.1:p.Leu961Ter | |
| XM_017009187.1:c.2880del | XP_016864676.1:p.Leu961Ter | |
| XM_024454388.1:c.1785del | XP_024310156.1:p.Leu596Ter | |
| XM_024454389.1:c.1374del | XP_024310157.1:p.Leu459Ter | |
| XR_001742034.1:n.2897del | ||
| XR_001742035.1:n.2897del | ||
| NM_001369.3:c.2772del MANE Select | NP_001360.1:p.Leu925Ter |