Linked Data
dbSNP Id:
rs764584510
gnomAD v3:
17-44379666-G-GGCCTGTCCCT
gnomAD v4:
17-44379666-G-GGCCTGTCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44379677_44379686dup , CM000679.2:g.44379677_44379686dup | GRCh38 |
| NC_000017.10:g.42457045_42457054dup , CM000679.1:g.42457045_42457054dup | GRCh37 |
| NC_000017.9:g.39812571_39812580dup | NCBI36 |
| NG_008331.1:g.14830_14839dup , LRG_479:g.14830_14839dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.1878+13_1878+22dup MANE Select | ENSP00000262407.5:n.1878+13_1878+22dup | |
| ENST00000648408.1:c.1309+13_1309+22dup | ||
| ENST00000262407.5:c.1878+13_1878+22dup | ENSP00000262407.5:n.1878+13_1878+22dup | |
| ENST00000592462.5:n.673+13_673+22dup | ||
| NM_000419.3:c.1878+13_1878+22dup , LRG_479t1:c.1878+13_1878+22dup | NP_000410.2:n.1878+13_1878+22dup | |
| XM_011524749.1:c.1878+13_1878+22dup | XP_011523051.1:n.1878+13_1878+22dup | |
| XM_011524750.1:c.1878+13_1878+22dup | XP_011523052.1:n.1878+13_1878+22dup | |
| NM_000419.4:c.1878+13_1878+22dup | NP_000410.2:n.1878+13_1878+22dup | |
| NM_000419.5:c.1878+13_1878+22dup MANE Select | NP_000410.2:n.1878+13_1878+22dup |