Linked Data
gnomAD v4:
10-114044019-C-CAGACGCTCACCAACCTCTTCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044019_114044020insAGACGCTCACCAACCTCTTCAT , CM000672.2:g.114044019_114044020insAGACGCTCACCAACCTCTTCAT | GRCh38 |
| NC_000010.10:g.115803778_115803779insAGACGCTCACCAACCTCTTCAT , CM000672.1:g.115803778_115803779insAGACGCTCACCAACCTCTTCAT | GRCh37 |
| NC_000010.9:g.115793768_115793769insAGACGCTCACCAACCTCTTCAT | NCBI36 |
| NG_012187.1:g.4973_4974insAGACGCTCACCAACCTCTTCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-114_-113insAGACGCTCACCAACCTCTTCAT MANE Select | ENSP00000358301.2:n.-114_-113insAGACGCTCACCAACCTCTTCAT | |
| NM_000684.3:c.-114_-113insAGACGCTCACCAACCTCTTCAT MANE Select | NP_000675.1:n.-114_-113insAGACGCTCACCAACCTCTTCAT |