Linked Data
ClinVar Variation Id:
128014
ClinVar RCV Id:
RCV000115950
dbSNP Id:
rs587780153
ExAC:
5:131944977 AAAAG / A
gnomAD v2:
5-131944977-AAAAG-A
gnomAD v3:
5-132609285-AAAAG-A
gnomAD v4:
5-132609285-AAAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609289_132609292del , CM000667.2:g.132609289_132609292del | GRCh38 |
| NC_000005.9:g.131944981_131944984del , CM000667.1:g.131944981_131944984del | GRCh37 |
| NC_000005.8:g.131972880_131972883del | NCBI36 |
| NG_021151.1:g.57366_57369del | |
| NG_021151.2:g.57313_57316del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2929_2932del MANE Select | ENSP00000368100.4:p.Glu977LeufsTer6 | |
| ENST00000638452.2:c.2632_2635del | ENSP00000492349.2:p.Glu878LeufsTer6 | |
| ENST00000638504.1:n.2537_2540del | ||
| ENST00000638568.2:c.2632_2635del | ENSP00000491158.2:p.Glu878LeufsTer6 | |
| ENST00000639899.1:n.3448_3451del | ||
| ENST00000640655.2:c.2632_2635del | ENSP00000491596.2:p.Glu878LeufsTer6 | |
| ENST00000651160.1:c.*1073_*1076del | ENSP00000498829.1:n.*1073_*1076del | |
| ENST00000651723.1:c.*3012_*3015del | ENSP00000498237.1:n.*3012_*3015del | |
| ENST00000378823.7:c.2929_2932del | ENSP00000368100.4:p.Glu977LeufsTer6 | |
| ENST00000423956.5:c.*1115_*1118del | ENSP00000390971.1:n.*1115_*1118del | |
| ENST00000533482.5:c.*2555_*2558del | ENSP00000431225.1:n.*2555_*2558del | |
| NM_005732.3:c.2929_2932del | NP_005723.2:p.Glu977LeufsTer6 | |
| NM_005732.4:c.2929_2932del MANE Select | NP_005723.2:p.Glu977LeufsTer6 |