Linked Data
ClinVar Variation Id:
584838
ClinVar RCV Id:
RCV000988975
dbSNP Id:
rs1484668823
gnomAD v2:
13-32889663-G-GCACTGCTGCGC
gnomAD v3:
13-32315526-G-GCACTGCTGCGC
gnomAD v4:
13-32315526-G-GCACTGCTGCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315528_32315538dup , CM000675.2:g.32315528_32315538dup | GRCh38 |
| NC_000013.10:g.32889665_32889675dup , CM000675.1:g.32889665_32889675dup | GRCh37 |
| NC_000013.9:g.31787665_31787675dup | NCBI36 |
| NG_012772.3:g.5049_5059dup , LRG_293:g.5049_5059dup | |
| NG_017006.1:g.1418_1428dup | |
| NG_017006.2:g.4827_4837dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.-179_-169dup | ENSP00000434898.2:n.-179_-169dup | |
| ENST00000528762.2:c.-179_-169dup | ENSP00000433168.2:n.-179_-169dup | |
| ENST00000530893.7:c.-544_-534dup | ENSP00000499438.2:n.-544_-534dup | |
| ENST00000665585.2:c.-179_-169dup | ENSP00000499570.2:n.-179_-169dup | |
| ENST00000666593.2:c.-179_-169dup | ENSP00000499256.2:n.-179_-169dup | |
| ENST00000700202.2:c.-179_-169dup | ENSP00000514856.2:n.-179_-169dup | |
| ENST00000380152.8:c.-179_-169dup MANE Select | ENSP00000369497.3:n.-179_-169dup | |
| ENST00000544455.6:c.-40+383_-40+393dup | ENSP00000439902.1:n.-40+383_-40+393dup | |
| ENST00000380152.7:c.-179_-169dup | ENSP00000369497.3:n.-179_-169dup | |
| ENST00000530893.6:n.24_34dup | ||
| ENST00000544455.5:c.-179_-169dup | ENSP00000439902.1:n.-179_-169dup | |
| NM_000059.3:c.-179_-169dup , LRG_293t1:c.-179_-169dup | NP_000050.2:n.-179_-169dup | |
| XM_011535203.1:c.-40+383_-40+393dup | XP_011533505.1:n.-40+383_-40+393dup | |
| XM_011535204.1:c.-179_-169dup | XP_011533506.1:n.-179_-169dup | |
| XM_011535205.1:c.-179_-169dup | XP_011533507.1:n.-179_-169dup | |
| NM_000059.4:c.-179_-169dup MANE Select | NP_000050.3:n.-179_-169dup |