Linked Data
ClinVar Variation Id:
1260458
dbSNP Id:
rs578098885
ExAC:
5:11385201 C / CGCG
gnomAD v2:
5-11385201-C-CGCG
gnomAD v3:
5-11385089-C-CGCG
gnomAD v4:
5-11385089-C-CGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.11385106_11385108dup , CM000667.2:g.11385106_11385108dup | GRCh38 |
| NC_000005.9:g.11385218_11385220dup , CM000667.1:g.11385218_11385220dup | GRCh37 |
| NC_000005.8:g.11438218_11438220dup | NCBI36 |
| NG_023544.1:g.523907_523909dup | |
| NG_023544.2:g.523907_523909dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706271.1:c.167-20202_167-20200dup | ENSP00000516315.1:n.167-20202_167-20200dup | |
| ENST00000304623.13:c.750_752dup MANE Select | ENSP00000307134.8:p.Ala251_Leu252insAla | |
| ENST00000304623.12:c.750_752dup | ENSP00000307134.8:p.Ala251_Leu252insAla | |
| ENST00000502551.5:c.398-20202_398-20200dup | ENSP00000422389.1:n.398-20202_398-20200dup | |
| ENST00000503622.5:c.167-20202_167-20200dup | ENSP00000426887.1:n.167-20202_167-20200dup | |
| ENST00000504354.5:n.217-20202_217-20200dup | ||
| ENST00000504499.5:c.612+11939_612+11941dup | ENSP00000421000.1:n.612+11939_612+11941dup | |
| ENST00000511278.5:n.542-20202_542-20200dup | ||
| ENST00000511377.5:c.477_479dup | ENSP00000426510.1:p.Ala160_Leu161insAla | |
| ENST00000513588.5:c.440-20202_440-20200dup | ENSP00000421093.1:n.440-20202_440-20200dup | |
| ENST00000513598.5:c.477_479dup | ENSP00000426625.1:p.Ala160_Leu161insAla | |
| ENST00000514132.1:n.399_401dup | ||
| NM_001288715.1:c.477_479dup | NP_001275644.1:p.Ala160_Leu161insAla | |
| NM_001288716.1:c.167-20202_167-20200dup | NP_001275645.1:n.167-20202_167-20200dup | |
| NM_001288717.1:c.-123+11939_-123+11941dup | NP_001275646.1:n.-123+11939_-123+11941dup | |
| NM_001332.3:c.750_752dup | NP_001323.1:p.Ala251_Leu252insAla | |
| NR_109988.1:n.630-20202_630-20200dup | ||
| XM_005248251.2:c.750_752dup | XP_005248308.1:p.Ala251_Leu252insAla | |
| XM_005248252.1:c.708_710dup | XP_005248309.1:p.Ala237_Leu238insAla | |
| XM_005248253.1:c.477_479dup | XP_005248310.1:p.Ala160_Leu161insAla | |
| XM_011513967.1:c.477_479dup | XP_011512269.1:p.Ala160_Leu161insAla | |
| NM_001364128.1:c.167-20202_167-20200dup | NP_001351057.1:n.167-20202_167-20200dup | |
| XM_005248251.3:c.750_752dup | XP_005248308.1:p.Ala251_Leu252insAla | |
| XM_005248252.2:c.708_710dup | XP_005248309.1:p.Ala237_Leu238insAla | |
| XM_011513967.2:c.477_479dup | XP_011512269.1:p.Ala160_Leu161insAla | |
| XM_017009072.1:c.440-20202_440-20200dup | XP_016864561.1:n.440-20202_440-20200dup | |
| XM_017009073.1:c.398-20202_398-20200dup | XP_016864562.1:n.398-20202_398-20200dup | |
| XM_017009074.1:c.440-20202_440-20200dup | XP_016864563.1:n.440-20202_440-20200dup | |
| XM_017009075.2:c.167-20202_167-20200dup | XP_016864564.1:n.167-20202_167-20200dup | |
| NM_001332.4:c.750_752dup MANE Select | NP_001323.1:p.Ala251_Leu252insAla | |
| NM_001288717.2:c.-123+11939_-123+11941dup | NP_001275646.1:n.-123+11939_-123+11941dup | |
| NR_109988.2:n.1033-20202_1033-20200dup | ||
| NM_001364128.2:c.167-20202_167-20200dup | NP_001351057.1:n.167-20202_167-20200dup |