Linked Data
dbSNP Id:
rs1569315996
gnomAD v2:
X-38534838-A-AGCT
gnomAD v3:
X-38675584-A-AGCT
gnomAD v4:
X-38675584-A-AGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675587_38675589dup , CM000685.2:g.38675587_38675589dup | GRCh38 |
| NC_000023.10:g.38534841_38534843dup , CM000685.1:g.38534841_38534843dup | GRCh37 |
| NC_000023.9:g.38419785_38419787dup | NCBI36 |
| NG_009160.1:g.119111_119113dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.442-118_442-116dup MANE Select | ENSP00000367743.2:n.442-118_442-116dup | |
| ENST00000286824.6:c.493-118_493-116dup | ENSP00000286824.6:n.493-118_493-116dup | |
| ENST00000378482.6:c.442-118_442-116dup | ENSP00000367743.2:n.442-118_442-116dup | |
| ENST00000419600.3:n.386-118_386-116dup | ||
| ENST00000465127.1:c.532-118_532-116dup | ENSP00000417050.1:n.532-118_532-116dup | |
| ENST00000471410.5:c.*468-118_*468-116dup | ENSP00000419290.1:n.*468-118_*468-116dup | |
| ENST00000475216.5:c.*435-118_*435-116dup | ENSP00000418586.1:n.*435-118_*435-116dup | |
| ENST00000488893.5:n.625-118_625-116dup | ||
| NM_004615.3:c.442-118_442-116dup | NP_004606.2:n.442-118_442-116dup | |
| NM_004615.4:c.442-118_442-116dup MANE Select | NP_004606.2:n.442-118_442-116dup |