Linked Data
gnomAD v4:
7-19116986-C-CTGTCTCCGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116986_19116987insTGTCTCCGG , CM000669.2:g.19116986_19116987insTGTCTCCGG | GRCh38 |
| NC_000007.13:g.19156609_19156610insTGTCTCCGG , CM000669.1:g.19156609_19156610insTGTCTCCGG | GRCh37 |
| NC_000007.12:g.19123134_19123135insTGTCTCCGG | NCBI36 |
| NG_008114.1:g.5686_5687insCCGGAGACA | |
| NG_008114.2:g.5686_5687insCCGGAGACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.335_336insCCGGAGACA MANE Select | ENSP00000242261.5:p.Met112delinsIleArgArgGln | |
| ENST00000242261.5:c.335_336insCCGGAGACA | ENSP00000242261.5:p.Met112delinsIleArgArgGln | |
| ENST00000354571.5:c.132_133insCCGGAGACA | ||
| NM_000474.3:c.335_336insCCGGAGACA | NP_000465.1:p.Met112delinsIleArgArgGln | |
| XM_011515496.1:c.335_336insCCGGAGACA | XP_011513798.1:p.Met112delinsIleArgArgGln | |
| NR_149001.1:n.686_687insCCGGAGACA | ||
| NM_000474.4:c.335_336insCCGGAGACA MANE Select | NP_000465.1:p.Met112delinsIleArgArgGln | |
| NR_149001.2:n.650_651insCCGGAGACA |