Linked Data
ClinVar Variation Id:
280829
ClinVar RCV Id:
RCV000378290
dbSNP Id:
rs886041967
MyVariant Identifiers:
chr5:g.131726379_131726380delinsTC (hg19)
chr5:g.132390687_132390688delinsTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390687_132390688delinsTC , CM000667.2:g.132390687_132390688delinsTC | GRCh38 |
| NC_000005.9:g.131726379_131726380delinsTC , CM000667.1:g.131726379_131726380delinsTC | GRCh37 |
| NC_000005.8:g.131754278_131754279delinsTC | NCBI36 |
| NG_008982.1:g.25979_25980delinsTC | |
| NG_008982.2:g.25984_25985delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.894-3_894-2delinsTC | ENSP00000388838.2:n.894-3_894-2delinsTC | |
| ENST00000435065.7:c.1125-3_1125-2delinsTC | ENSP00000402760.2:n.1125-3_1125-2delinsTC | |
| ENST00000448810.6:c.1053-89_1053-88delinsTC | ENSP00000401860.2:n.1053-89_1053-88delinsTC | |
| ENST00000685543.1:n.1194-3_1194-2delinsTC | ||
| ENST00000686757.1:c.*217-3_*217-2delinsTC | ENSP00000510721.1:n.*217-3_*217-2delinsTC | |
| ENST00000687740.1:n.3738-3_3738-2delinsTC | ||
| ENST00000688151.1:n.2363-3_2363-2delinsTC | ||
| ENST00000689271.1:c.900-3_900-2delinsTC | ENSP00000510797.1:n.900-3_900-2delinsTC | |
| ENST00000690900.1:c.*217-3_*217-2delinsTC | ENSP00000510703.1:n.*217-3_*217-2delinsTC | |
| ENST00000692212.1:n.2662_2663delinsTC | ||
| ENST00000692355.1:c.306-3_306-2delinsTC | ||
| ENST00000692413.1:c.1035-3_1035-2delinsTC | ENSP00000509374.1:n.1035-3_1035-2delinsTC | |
| ENST00000692825.1:c.1121-3_1121-2delinsTC | ENSP00000509447.1:n.1121-3_1121-2delinsTC | |
| ENST00000693308.1:c.1101-3_1101-2delinsTC | ENSP00000509770.1:n.1101-3_1101-2delinsTC | |
| ENST00000693763.1:n.2213-3_2213-2delinsTC | ||
| ENST00000245407.8:c.1053-3_1053-2delinsTC MANE Select | ENSP00000245407.3:n.1053-3_1053-2delinsTC | |
| ENST00000245407.7:c.1053-3_1053-2delinsTC | ENSP00000245407.3:n.1053-3_1053-2delinsTC | |
| ENST00000435065.6:c.1125-3_1125-2delinsTC | ENSP00000402760.2:n.1125-3_1125-2delinsTC | |
| ENST00000447841.5:c.111+1666_111+1667delinsTC | ||
| ENST00000448810.5:c.401-89_401-88delinsTC | ||
| ENST00000461013.5:n.8475-3_8475-2delinsTC | ||
| ENST00000475308.1:n.1728_1729delinsTC | ||
| ENST00000479605.5:n.156-3_156-2delinsTC | ||
| NM_001308122.1:c.1125-3_1125-2delinsTC | NP_001295051.1:n.1125-3_1125-2delinsTC | |
| NM_003060.3:c.1053-3_1053-2delinsTC | NP_003051.1:n.1053-3_1053-2delinsTC | |
| XM_011543590.1:c.435-3_435-2delinsTC | XP_011541892.1:n.435-3_435-2delinsTC | |
| XR_427718.1:n.1413-3_1413-2delinsTC | ||
| XR_948290.1:n.1393+1666_1393+1667delinsTC | ||
| XR_948291.1:n.1407-3_1407-2delinsTC | ||
| XM_011543590.2:c.435-3_435-2delinsTC | XP_011541892.1:n.435-3_435-2delinsTC | |
| XM_017009778.2:c.525-3_525-2delinsTC | XP_016865267.1:n.525-3_525-2delinsTC | |
| XR_001742215.1:n.1394-89_1394-88delinsTC | ||
| XR_001742216.1:n.1413-89_1413-88delinsTC | ||
| XR_427718.2:n.1413-3_1413-2delinsTC | ||
| XR_948290.2:n.1393+1666_1393+1667delinsTC | ||
| XR_948291.2:n.1407-3_1407-2delinsTC | ||
| NM_003060.4:c.1053-3_1053-2delinsTC MANE Select | NP_003051.1:n.1053-3_1053-2delinsTC | |
| NM_001308122.2:c.1125-3_1125-2delinsTC | NP_001295051.1:n.1125-3_1125-2delinsTC |