Linked Data
dbSNP Id:
rs2092905613
gnomAD v3:
17-42536277-A-AGGCGGTGGCGGTGGCCGC
gnomAD v4:
17-42536277-A-AGGCGGTGGCGGTGGCCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536286_42536303dup , CM000679.2:g.42536286_42536303dup | GRCh38 |
| NC_000017.10:g.40688304_40688321dup , CM000679.1:g.40688304_40688321dup | GRCh37 |
| NC_000017.9:g.37941830_37941847dup | NCBI36 |
| NG_011552.1:g.5354_5371dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.14_31dup MANE Select | ENSP00000225927.1:p.Val10_Gly11insAlaValAlaAlaAlaVal | |
| ENST00000225927.6:c.14_31dup | ENSP00000225927.1:p.Val10_Gly11insAlaValAlaAlaAlaVal | |
| NM_000263.3:c.14_31dup | NP_000254.2:p.Val10_Gly11insAlaValAlaAlaAlaVal | |
| XM_024450771.1:c.14_31dup | XP_024306539.1:p.Val10_Gly11insAlaValAlaAlaAlaVal | |
| NM_000263.4:c.14_31dup MANE Select | NP_000254.2:p.Val10_Gly11insAlaValAlaAlaAlaVal |