Linked Data
ClinVar Variation Id:
6428
dbSNP Id:
rs267607053
MyVariant Identifiers:
chr5:g.131728181_131728182delinsAT (hg19)
chr5:g.132392489_132392490delinsAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132392489_132392490delinsAT , CM000667.2:g.132392489_132392490delinsAT | GRCh38 |
| NC_000005.9:g.131728181_131728182delinsAT , CM000667.1:g.131728181_131728182delinsAT | GRCh37 |
| NC_000005.8:g.131756080_131756081delinsAT | NCBI36 |
| NG_008982.1:g.27781_27782delinsAT | |
| NG_008982.2:g.27786_27787delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1165_1166delinsAT | ENSP00000388838.2:p.Ala389Ile | |
| ENST00000435065.7:c.1396_1397delinsAT | ENSP00000402760.2:p.Ala466Ile | |
| ENST00000448810.6:c.*176_*177delinsAT | ENSP00000401860.2:n.*176_*177delinsAT | |
| ENST00000685543.1:n.1465_1466delinsAT | ||
| ENST00000686757.1:c.*488_*489delinsAT | ENSP00000510721.1:n.*488_*489delinsAT | |
| ENST00000687740.1:n.4009_4010delinsAT | ||
| ENST00000688151.1:n.2634_2635delinsAT | ||
| ENST00000689271.1:c.1171_1172delinsAT | ENSP00000510797.1:p.Ala391Ile | |
| ENST00000690900.1:c.*488_*489delinsAT | ENSP00000510703.1:n.*488_*489delinsAT | |
| ENST00000692212.1:n.4464_4465delinsAT | ||
| ENST00000692355.1:c.577_578delinsAT | ||
| ENST00000692413.1:c.1306_1307delinsAT | ENSP00000509374.1:p.Ala436Ile | |
| ENST00000692825.1:c.1392_1393delinsAT | ENSP00000509447.1:n.1392_1393delinsAT | |
| ENST00000693308.1:c.1372_1373delinsAT | ENSP00000509770.1:p.Ala458Ile | |
| ENST00000693763.1:n.2484_2485delinsAT | ||
| ENST00000245407.8:c.1324_1325delinsAT MANE Select | ENSP00000245407.3:p.Ala442Ile | |
| ENST00000245407.7:c.1324_1325delinsAT | ENSP00000245407.3:p.Ala442Ile | |
| ENST00000435065.6:c.1396_1397delinsAT | ENSP00000402760.2:p.Ala466Ile | |
| ENST00000447841.5:c.168_169delinsAT | ||
| ENST00000448810.5:c.586_587delinsAT | ||
| ENST00000461013.5:n.8746_8747delinsAT | ||
| ENST00000475308.1:n.2002_2003delinsAT | ||
| ENST00000479605.5:n.427_428delinsAT | ||
| NM_001308122.1:c.1396_1397delinsAT | NP_001295051.1:p.Ala466Ile | |
| NM_003060.3:c.1324_1325delinsAT | NP_003051.1:p.Ala442Ile | |
| XM_011543590.1:c.706_707delinsAT | XP_011541892.1:p.Ala236Ile | |
| XR_948290.1:n.1450_1451delinsAT | ||
| XM_011543590.2:c.706_707delinsAT | XP_011541892.1:p.Ala236Ile | |
| XM_017009778.2:c.796_797delinsAT | XP_016865267.1:p.Ala266Ile | |
| XR_001742215.1:n.1579_1580delinsAT | ||
| XR_001742216.1:n.1598_1599delinsAT | ||
| XR_427718.2:n.1684_1685delinsAT | ||
| XR_948290.2:n.1450_1451delinsAT | ||
| XR_948291.2:n.1678_1679delinsAT | ||
| NM_003060.4:c.1324_1325delinsAT MANE Select | NP_003051.1:p.Ala442Ile | |
| NM_001308122.2:c.1396_1397delinsAT | NP_001295051.1:p.Ala466Ile |