Linked Data
dbSNP Id:
rs1658043258
gnomAD v3:
1-114677831-T-TTCCTTCCG
gnomAD v4:
1-114677831-T-TTCCTTCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677838_114677839insGTCCTTCC , CM000663.2:g.114677838_114677839insGTCCTTCC | GRCh38 |
| NC_000001.10:g.115220459_115220460insGTCCTTCC , CM000663.1:g.115220459_115220460insGTCCTTCC | GRCh37 |
| NC_000001.9:g.115021982_115021983insGTCCTTCC | NCBI36 |
| NG_008012.1:g.22724_22725insCGGAAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1212+78_1212+79insCGGAAGGA | ENSP00000358551.4:n.1212+78_1212+79insCGGAAGGA | |
| ENST00000520113.7:c.1224+78_1224+79insCGGAAGGA MANE Select | ENSP00000430075.3:n.1224+78_1224+79insCGGAAGGA | |
| ENST00000637080.1:c.1007+78_1007+79insCGGAAGGA | ENSP00000489753.1:n.1007+78_1007+79insCGGAAGGA | |
| ENST00000639077.1:n.889+78_889+79insCGGAAGGA | ||
| ENST00000369538.3:c.1311+78_1311+79insCGGAAGGA | ENSP00000358551.3:n.1311+78_1311+79insCGGAAGGA | |
| ENST00000520113.6:c.1323+78_1323+79insCGGAAGGA | ENSP00000430075.2:n.1323+78_1323+79insCGGAAGGA | |
| NM_000036.2:c.1323+78_1323+79insCGGAAGGA | NP_000027.2:n.1323+78_1323+79insCGGAAGGA | |
| NM_001172626.1:c.1311+78_1311+79insCGGAAGGA | NP_001166097.1:n.1311+78_1311+79insCGGAAGGA | |
| NM_000036.3:c.1224+78_1224+79insCGGAAGGA MANE Select | NP_000027.3:n.1224+78_1224+79insCGGAAGGA | |
| NM_001172626.2:c.1212+78_1212+79insCGGAAGGA | NP_001166097.2:n.1212+78_1212+79insCGGAAGGA |