Linked Data
gnomAD v4:
7-95324510-A-AGCCTCCTAGCCCGTCGGTGTCTGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324510_95324511insGCCTCCTAGCCCGTCGGTGTCTGCG , CM000669.2:g.95324510_95324511insGCCTCCTAGCCCGTCGGTGTCTGCG | GRCh38 |
| NC_000007.13:g.94953822_94953823insGCCTCCTAGCCCGTCGGTGTCTGCG , CM000669.1:g.94953822_94953823insGCCTCCTAGCCCGTCGGTGTCTGCG | GRCh37 |
| NC_000007.12:g.94791758_94791759insGCCTCCTAGCCCGTCGGTGTCTGCG | NCBI36 |
| NG_008779.1:g.5062_5063insCGCAGACACCGACGGGCTAGGAGGC | |
| NG_008779.2:g.5196_5197insCGCAGACACCGACGGGCTAGGAGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.-36_-35insCGCAGACACCGACGGGCTAGGAGGC MANE Select | ENSP00000222381.3:n.-36_-35insCGCAGACACCGACGGGCTAGGAGGC | |
| ENST00000222381.7:c.-36_-35insCGCAGACACCGACGGGCTAGGAGGC | ENSP00000222381.3:n.-36_-35insCGCAGACACCGACGGGCTAGGAGGC | |
| NM_000446.5:c.-36_-35insCGCAGACACCGACGGGCTAGGAGGC | NP_000437.3:n.-36_-35insCGCAGACACCGACGGGCTAGGAGGC | |
| NM_000446.6:c.-36_-35insCGCAGACACCGACGGGCTAGGAGGC | NP_000437.3:n.-36_-35insCGCAGACACCGACGGGCTAGGAGGC | |
| NM_000446.7:c.-36_-35insCGCAGACACCGACGGGCTAGGAGGC MANE Select | NP_000437.3:n.-36_-35insCGCAGACACCGACGGGCTAGGAGGC |