Linked Data
ClinVar Variation Id:
231180
dbSNP Id:
rs876659005
ExAC:
5:131915560 T / TA
gnomAD v2:
5-131915560-T-TA
gnomAD v4:
5-132579868-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132579871dup , CM000667.2:g.132579871dup | GRCh38 |
| NC_000005.9:g.131915563dup , CM000667.1:g.131915563dup | GRCh37 |
| NC_000005.8:g.131943462dup | NCBI36 |
| NG_021151.1:g.27948dup | |
| NG_021151.2:g.27895dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.561dup MANE Select | ENSP00000368100.4:p.Ala188SerfsTer30 | |
| ENST00000638452.2:c.264dup | ENSP00000492349.2:p.Ala89SerfsTer30 | |
| ENST00000638504.1:n.442+3943dup | ||
| ENST00000638568.2:c.264dup | ENSP00000491158.2:p.Ala89SerfsTer30 | |
| ENST00000639899.1:n.1080dup | ||
| ENST00000640655.2:c.264dup | ENSP00000491596.2:p.Ala89SerfsTer30 | |
| ENST00000651160.1:c.561dup | ENSP00000498829.1:p.Ala188SerfsTer30 | |
| ENST00000651541.1:c.264dup | ENSP00000498795.1:p.Ala89SerfsTer30 | |
| ENST00000651658.1:n.988dup | ||
| ENST00000651723.1:c.*644dup | ENSP00000498237.1:n.*644dup | |
| ENST00000652016.1:c.561dup | ENSP00000498267.1:p.Ala188SerfsTer30 | |
| ENST00000652485.1:c.561dup | ENSP00000498973.1:p.Ala188SerfsTer30 | |
| ENST00000378823.7:c.561dup | ENSP00000368100.4:p.Ala188SerfsTer30 | |
| ENST00000416135.5:c.264dup | ENSP00000389515.1:p.Ala89SerfsTer? | |
| ENST00000423956.5:c.561dup | ENSP00000390971.1:p.Ala188SerfsTer30 | |
| ENST00000453394.5:c.561dup | ENSP00000400049.1:p.Ala188SerfsTer30 | |
| ENST00000487596.1:n.127dup | ||
| ENST00000533482.5:c.*187dup | ENSP00000431225.1:n.*187dup | |
| NM_005732.3:c.561dup | NP_005723.2:p.Ala188SerfsTer30 | |
| NM_005732.4:c.561dup MANE Select | NP_005723.2:p.Ala188SerfsTer30 |