Linked Data
ClinVar Variation Id:
371578
ClinVar RCV Id:
RCV000409035
dbSNP Id:
rs1057517379
gnomAD v4:
15-40405928-CCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40405929_40405930del , CM000677.2:g.40405929_40405930del | GRCh38 |
| NC_000015.9:g.40698130_40698131del , CM000677.1:g.40698130_40698131del | GRCh37 |
| NC_000015.8:g.38485422_38485423del | NCBI36 |
| NG_011986.1:g.5445_5446del | |
| NG_011986.2:g.5445_5446del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000479013.7:c.102_103del | ENSP00000417990.3:p.Val35GlyfsTer? | |
| ENST00000487418.8:c.102_103del MANE Select | ENSP00000418397.3:p.Val35GlyfsTer20 | |
| ENST00000610693.5:c.102_103del | ENSP00000479359.2:p.Val35GlyfsTer20 | |
| ENST00000650656.1:c.111_112del | ENSP00000498731.1:p.Val38GlyfsTer? | |
| ENST00000651168.1:c.111_112del | ENSP00000499074.1:p.Val38GlyfsTer20 | |
| ENST00000479013.6:c.111_112del | ENSP00000417990.2:p.Val38GlyfsTer? | |
| ENST00000487418.6:c.111_112del | ENSP00000418397.2:p.Val38GlyfsTer20 | |
| ENST00000610693.4:c.111_112del | ENSP00000479359.1:p.Val38GlyfsTer20 | |
| NM_001159508.1:c.111_112del | NP_001152980.1:p.Val38GlyfsTer? | |
| NM_002225.3:c.111_112del | NP_002216.2:p.Val38GlyfsTer20 | |
| XM_005254350.2:c.111_112del | XP_005254407.1:p.Val38GlyfsTer20 | |
| XM_005254356.2:c.111_112del | XP_005254413.1:p.Val38GlyfsTer20 | |
| XM_006720492.2:c.111_112del | XP_006720555.1:p.Val38GlyfsTer20 | |
| XM_006720493.2:c.111_112del | XP_006720556.1:p.Val38GlyfsTer20 | |
| XM_006720494.2:c.111_112del | XP_006720557.1:p.Val38GlyfsTer20 | |
| XM_006720495.2:c.111_112del | XP_006720558.1:p.Val38GlyfsTer20 | |
| XM_011521523.1:c.111_112del | XP_011519825.1:p.Val38GlyfsTer20 | |
| XM_011521524.1:c.111_112del | XP_011519826.1:p.Val38GlyfsTer20 | |
| XR_243097.3:n.111_112del | ||
| XR_243098.2:n.111_112del | ||
| XR_429453.2:n.212_213del | ||
| NM_001159508.2:c.102_103del | NP_001152980.2:p.Val35GlyfsTer? | |
| NM_001354597.2:c.-326_-325del | NP_001341526.1:n.-326_-325del | |
| NM_001354598.2:c.102_103del | NP_001341527.2:p.Val35GlyfsTer20 | |
| NM_001354599.2:c.102_103del | NP_001341528.2:p.Val35GlyfsTer20 | |
| NM_001354600.2:c.102_103del | NP_001341529.2:p.Val35GlyfsTer20 | |
| NM_001354601.2:c.102_103del | NP_001341530.2:p.Val35GlyfsTer20 | |
| NM_002225.4:c.102_103del | NP_002216.3:p.Val35GlyfsTer20 | |
| NR_148925.1:n.133_134del | ||
| XM_006720495.3:c.111_112del | XP_006720558.1:p.Val38GlyfsTer20 | |
| XM_017022149.1:c.111_112del | XP_016877638.1:p.Val38GlyfsTer20 | |
| XM_017022150.1:c.111_112del | XP_016877639.1:p.Val38GlyfsTer20 | |
| XM_017022153.1:c.111_112del | XP_016877642.1:p.Val38GlyfsTer20 | |
| XM_017022155.2:c.111_112del | XP_016877644.1:p.Val38GlyfsTer20 | |
| XM_017022157.1:c.111_112del | XP_016877646.1:p.Val38GlyfsTer20 | |
| XM_017022158.2:c.111_112del | XP_016877647.1:p.Val38GlyfsTer20 | |
| XR_001751263.1:n.82_83del | ||
| XR_001751264.1:n.123_124del | ||
| NM_001159508.3:c.102_103del | NP_001152980.2:p.Val35GlyfsTer? | |
| NM_001354597.3:c.-326_-325del | NP_001341526.1:n.-326_-325del | |
| NM_001354598.3:c.102_103del | NP_001341527.2:p.Val35GlyfsTer20 | |
| NM_001354599.3:c.102_103del | NP_001341528.2:p.Val35GlyfsTer20 | |
| NM_001354600.3:c.102_103del | NP_001341529.2:p.Val35GlyfsTer20 | |
| NM_001354601.3:c.102_103del | NP_001341530.2:p.Val35GlyfsTer20 | |
| NM_002225.5:c.102_103del MANE Select | NP_002216.3:p.Val35GlyfsTer20 | |
| NR_148925.2:n.135_136del |