Linked Data
ClinVar Variation Id:
196043
ClinVar RCV Id:
RCV000176767
dbSNP Id:
rs797044696
gnomAD v4:
4-78379798-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78379803dup , CM000666.2:g.78379803dup | GRCh38 |
| NC_000004.11:g.79300957dup , CM000666.1:g.79300957dup | GRCh37 |
| NC_000004.10:g.79519981dup | NCBI36 |
| NG_015812.1:g.327234dup | |
| NG_015812.2:g.327234dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325942.11:c.3370dup | ENSP00000326330.6:p.Ser1124PhefsTer11 | |
| ENST00000682513.1:c.3370dup | ENSP00000508201.1:p.Ser1124PhefsTer11 | |
| ENST00000684159.1:c.3370dup | ENSP00000506875.1:p.Ser1124PhefsTer11 | |
| ENST00000512123.4:c.3370dup MANE Select | ENSP00000422834.2:p.Ser1124PhefsTer11 | |
| ENST00000264899.10:c.845-64300dup | ENSP00000264899.7:n.845-64300dup | |
| ENST00000325942.10:c.3370dup | ENSP00000326330.6:p.Ser1124PhefsTer11 | |
| ENST00000512123.3:c.3370dup | ENSP00000422834.2:p.Ser1124PhefsTer11 | |
| NM_001166133.1:c.3370dup | NP_001159605.1:p.Ser1124PhefsTer11 | |
| NM_025074.6:c.3370dup | NP_079350.5:p.Ser1124PhefsTer11 | |
| XM_006714314.1:c.3370dup | XP_006714377.1:p.Ser1124PhefsTer11 | |
| XM_006714316.1:c.3370dup | XP_006714379.1:p.Ser1124PhefsTer11 | |
| XM_011532270.1:c.1069dup | XP_011530572.1:p.Ser357PhefsTer11 | |
| XM_006714316.3:c.3370dup | XP_006714379.1:p.Ser1124PhefsTer11 | |
| NM_025074.7:c.3370dup MANE Select | NP_079350.5:p.Ser1124PhefsTer11 | |
| NM_001166133.2:c.3370dup | NP_001159605.1:p.Ser1124PhefsTer11 |