Linked Data
ClinVar Variation Id:
97621
ClinVar RCV Id:
RCV000083873
dbSNP Id:
rs1555279054
gnomAD v2:
12-110029032-C-CT
gnomAD v4:
12-109591227-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109591234dup , CM000674.2:g.109591234dup | GRCh38 |
| NC_000012.11:g.110029039dup , CM000674.1:g.110029039dup | GRCh37 |
| NC_000012.10:g.108513422dup | NCBI36 |
| NG_007702.1:g.22540dup , LRG_156:g.22540dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-75-7dup | ENSP00000439134.1:n.-75-7dup | |
| ENST00000546277.6:c.769-7dup | ENSP00000438153.2:n.769-7dup | |
| ENST00000636529.2:n.408-7dup | ||
| ENST00000697195.1:c.*533-7dup | ENSP00000513181.1:n.*533-7dup | |
| ENST00000697196.1:c.857-7dup | ENSP00000513182.1:n.857-7dup | |
| ENST00000697197.1:n.2791dup | ||
| ENST00000228510.8:c.769-7dup MANE Select | ENSP00000228510.3:n.769-7dup | |
| ENST00000636529.1:c.394-7dup | ||
| ENST00000636996.1:c.617-7dup | ||
| ENST00000228510.7:c.769-7dup | ENSP00000228510.3:n.769-7dup | |
| ENST00000392727.7:c.613-7dup | ENSP00000376487.3:n.613-7dup | |
| ENST00000447878.6:c.*216-7dup | ENSP00000415555.2:n.*216-7dup | |
| ENST00000537237.5:c.*442-7dup | ENSP00000445382.1:n.*442-7dup | |
| ENST00000539575.4:c.769-7dup | ENSP00000443551.2:n.769-7dup | |
| ENST00000539696.5:c.-75-7dup | ENSP00000439134.1:n.-75-7dup | |
| ENST00000540353.1:n.3002-7dup | ||
| ENST00000625889.2:c.613-7dup | ENSP00000486846.1:n.613-7dup | |
| ENST00000629016.2:c.*216-7dup | ENSP00000486804.1:n.*216-7dup | |
| NM_000431.3:c.769-7dup | NP_000422.1:n.769-7dup | |
| NM_001114185.2:c.769-7dup | NP_001107657.1:n.769-7dup | |
| NM_001301182.1:c.613-7dup | NP_001288111.1:n.613-7dup | |
| XM_011538372.1:c.769-7dup | XP_011536674.1:n.769-7dup | |
| XM_017019313.2:c.613-7dup | XP_016874802.1:n.613-7dup | |
| XM_017019314.1:c.769-7dup | XP_016874803.1:n.769-7dup | |
| XM_024448982.1:c.769-7dup | XP_024304750.1:n.769-7dup | |
| NM_000431.4:c.769-7dup MANE Select | NP_000422.1:n.769-7dup | |
| NM_001114185.3:c.769-7dup | NP_001107657.1:n.769-7dup | |
| NM_001301182.2:c.613-7dup | NP_001288111.1:n.613-7dup |