Linked Data
dbSNP Id:
rs2030858931
gnomAD v3:
16-17138625-G-GTAAGAAC
gnomAD v4:
16-17138625-G-GTAAGAAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138627_17138633dup , CM000678.2:g.17138627_17138633dup | GRCh38 |
| NC_000016.9:g.17232484_17232490dup , CM000678.1:g.17232484_17232490dup | GRCh37 |
| NC_000016.8:g.17139985_17139991dup | NCBI36 |
| NG_015843.1:g.337250_337256dup | |
| NG_015843.2:g.337250_337256dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1588-101_1588-95dup MANE Select | ENSP00000261381.6:n.1588-101_1588-95dup | |
| ENST00000261381.6:c.1588-101_1588-95dup | ENSP00000261381.6:n.1588-101_1588-95dup | |
| NM_022166.3:c.1588-101_1588-95dup | NP_071449.1:n.1588-101_1588-95dup | |
| XM_011522574.1:c.1588-101_1588-95dup | XP_011520876.1:n.1588-101_1588-95dup | |
| XR_933141.1:n.560_566dup | ||
| NR_135179.1:n.532_538dup | ||
| XM_017023539.2:c.1588-101_1588-95dup | XP_016879028.1:n.1588-101_1588-95dup | |
| XM_017023540.2:c.1588-101_1588-95dup | XP_016879029.1:n.1588-101_1588-95dup | |
| NM_022166.4:c.1588-101_1588-95dup MANE Select | NP_071449.1:n.1588-101_1588-95dup |