Linked Data
gnomAD v4:
12-69353494-G-GGTCTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353494_69353495insGTCTTTTTTTT , CM000674.2:g.69353494_69353495insGTCTTTTTTTT | GRCh38 |
| NC_000012.11:g.69747274_69747275insGTCTTTTTTTT , CM000674.1:g.69747274_69747275insGTCTTTTTTTT | GRCh37 |
| NC_000012.10:g.68033541_68033542insGTCTTTTTTTT | NCBI36 |
| NG_008195.1:g.10141_10142insGTCTTTTTTTT , LRG_768:g.10141_10142insGTCTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*275_*276insGTCTTTTTTTT MANE Select | ENSP00000261267.2:n.*275_*276insGTCTTTTTTTT | |
| ENST00000261267.6:c.*275_*276insGTCTTTTTTTT | ENSP00000261267.2:n.*275_*276insGTCTTTTTTTT | |
| ENST00000549690.1:c.*229_*230insGTCTTTTTTTT | ENSP00000449898.1:n.*229_*230insGTCTTTTTTTT | |
| NM_000239.2:c.*275_*276insGTCTTTTTTTT , LRG_768t1:c.*275_*276insGTCTTTTTTTT | NP_000230.1:n.*275_*276insGTCTTTTTTTT | |
| NM_000239.3:c.*275_*276insGTCTTTTTTTT MANE Select | NP_000230.1:n.*275_*276insGTCTTTTTTTT |