Linked Data
dbSNP Id:
rs200156944
gnomAD v2:
13-32950658-C-CAA
gnomAD v3:
13-32376521-C-CAA
gnomAD v4:
13-32376521-C-CAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376534_32376535dup , CM000675.2:g.32376534_32376535dup | GRCh38 |
| NC_000013.10:g.32950671_32950672dup , CM000675.1:g.32950671_32950672dup | GRCh37 |
| NC_000013.9:g.31848671_31848672dup | NCBI36 |
| NG_012772.3:g.66055_66056dup , LRG_293:g.66055_66056dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8633-136_8633-135dup | ENSP00000434898.2:n.8633-136_8633-135dup | |
| ENST00000528762.2:c.8697-136_8697-135dup | ENSP00000433168.2:n.8697-136_8697-135dup | |
| ENST00000530893.7:c.8264-136_8264-135dup | ENSP00000499438.2:n.8264-136_8264-135dup | |
| ENST00000665585.2:c.*195-136_*195-135dup | ENSP00000499570.2:n.*195-136_*195-135dup | |
| ENST00000666593.2:c.8633-136_8633-135dup | ENSP00000499256.2:n.8633-136_8633-135dup | |
| ENST00000700202.2:c.8633-136_8633-135dup | ENSP00000514856.2:n.8633-136_8633-135dup | |
| ENST00000700202.1:c.1100-136_1100-135dup | ENSP00000514856.1:n.1100-136_1100-135dup | |
| ENST00000700203.1:n.624_625dup | ||
| ENST00000380152.8:c.8633-136_8633-135dup MANE Select | ENSP00000369497.3:n.8633-136_8633-135dup | |
| ENST00000544455.6:c.8633-136_8633-135dup | ENSP00000439902.1:n.8633-136_8633-135dup | |
| ENST00000614259.2:c.8641-136_8641-135dup | ENSP00000506251.1:n.8641-136_8641-135dup | |
| ENST00000665585.1:c.1511-136_1511-135dup | ||
| ENST00000680887.1:c.8633-136_8633-135dup | ENSP00000505508.1:n.8633-136_8633-135dup | |
| ENST00000380152.7:c.8633-136_8633-135dup | ENSP00000369497.3:n.8633-136_8633-135dup | |
| ENST00000528762.1:c.195-136_195-135dup | ENSP00000433168.1:n.195-136_195-135dup | |
| ENST00000544455.5:c.8633-136_8633-135dup | ENSP00000439902.1:n.8633-136_8633-135dup | |
| NM_000059.3:c.8633-136_8633-135dup , LRG_293t1:c.8633-136_8633-135dup | NP_000050.2:n.8633-136_8633-135dup | |
| XM_011535203.1:c.8633-136_8633-135dup | XP_011533505.1:n.8633-136_8633-135dup | |
| XM_011535204.1:c.8537-136_8537-135dup | XP_011533506.1:n.8537-136_8537-135dup | |
| XM_011535205.1:c.8633-136_8633-135dup | XP_011533507.1:n.8633-136_8633-135dup | |
| NM_000059.4:c.8633-136_8633-135dup MANE Select | NP_000050.3:n.8633-136_8633-135dup |