Linked Data
dbSNP Id:
rs752139031
gnomAD v2:
7-143018967-A-AGCTTCAGTCTGAGG
gnomAD v4:
7-143321874-A-AGCTTCAGTCTGAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321877_143321878insTCAGTCTGAGGGCT , CM000669.2:g.143321877_143321878insTCAGTCTGAGGGCT | GRCh38 |
| NC_000007.13:g.143018970_143018971insTCAGTCTGAGGGCT , CM000669.1:g.143018970_143018971insTCAGTCTGAGGGCT | GRCh37 |
| NC_000007.12:g.142729092_142729093insTCAGTCTGAGGGCT | NCBI36 |
| NG_009815.1:g.10752_10753insTCAGTCTGAGGGCT | |
| NG_009815.2:g.10752_10753insTCAGTCTGAGGGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.696+29_696+30insTCAGTCTGAGGGCT | ENSP00000498052.2:n.696+29_696+30insTCAGTCTGAGGGCT | |
| ENST00000343257.7:c.696+29_696+30insTCAGTCTGAGGGCT MANE Select | ENSP00000339867.2:n.696+29_696+30insTCAGTCTGAGGGCT | |
| ENST00000432192.6:c.464+29_464+30insTCAGTCTGAGGGCT | ||
| ENST00000455478.6:c.150+29_150+30insTCAGTCTGAGGGCT | ENSP00000400027.2:n.150+29_150+30insTCAGTCTGAGGGCT | |
| ENST00000650516.1:c.696+29_696+30insTCAGTCTGAGGGCT | ENSP00000498052.1:n.696+29_696+30insTCAGTCTGAGGGCT | |
| ENST00000343257.6:c.696+29_696+30insTCAGTCTGAGGGCT | ENSP00000339867.2:n.696+29_696+30insTCAGTCTGAGGGCT | |
| ENST00000432192.5:c.154+29_154+30insTCAGTCTGAGGGCT | ||
| ENST00000455478.5:c.154+29_154+30insTCAGTCTGAGGGCT | ||
| ENST00000495612.1:n.154+29_154+30insTCAGTCTGAGGGCT | ||
| NM_000083.2:c.696+29_696+30insTCAGTCTGAGGGCT | NP_000074.2:n.696+29_696+30insTCAGTCTGAGGGCT | |
| NR_046453.1:n.783+29_783+30insTCAGTCTGAGGGCT | ||
| XM_011515781.1:c.696+29_696+30insTCAGTCTGAGGGCT | XP_011514083.1:n.696+29_696+30insTCAGTCTGAGGGCT | |
| XM_017011739.1:c.403+29_403+30insTCAGTCTGAGGGCT | XP_016867228.1:n.403+29_403+30insTCAGTCTGAGGGCT | |
| XM_017011740.1:c.403+29_403+30insTCAGTCTGAGGGCT | XP_016867229.1:n.403+29_403+30insTCAGTCTGAGGGCT | |
| NM_000083.3:c.696+29_696+30insTCAGTCTGAGGGCT MANE Select | NP_000074.3:n.696+29_696+30insTCAGTCTGAGGGCT | |
| NR_046453.2:n.798+29_798+30insTCAGTCTGAGGGCT |