Linked Data
gnomAD v2:
6-31324524-G-GTGTTGGT
gnomAD v4:
6-31356747-G-GTGTTGGT
MyVariant Identifiers:
chr6:g.31324525_31324526delinsTGTTGGTCC (hg19)
chr6:g.31356748_31356749delinsTGTTGGTCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356747_31356748insTGTTGGT , CM000668.2:g.31356747_31356748insTGTTGGT | GRCh38 |
| NC_000006.11:g.31324524_31324525insTGTTGGT , CM000668.1:g.31324524_31324525insTGTTGGT | GRCh37 |
| NC_000006.10:g.31432503_31432504insTGTTGGT | NCBI36 |
| NG_023187.1:g.5465_5466insACCAACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1756_1757insACCAACA | ||
| ENST00000481849.6:n.1756_1757insACCAACA | ||
| ENST00000497377.6:n.1756_1757insACCAACA | ||
| ENST00000640094.2:c.283_284insACCAACA | ENSP00000491275.2:p.Ala95AspfsTer6 | |
| ENST00000696558.1:c.283_284insACCAACA | ENSP00000512716.1:p.Ala95AspfsTer6 | |
| ENST00000696559.1:c.283_284insACCAACA | ENSP00000512717.1:p.Ala95AspfsTer6 | |
| ENST00000696560.1:c.283_284insACCAACA | ENSP00000512718.1:p.Ala95AspfsTer6 | |
| ENST00000696561.1:c.283_284insACCAACA | ENSP00000512719.1:p.Ala95AspfsTer6 | |
| ENST00000696562.1:c.283_284insACCAACA | ENSP00000512720.1:p.Ala95AspfsTer6 | |
| ENST00000412585.7:c.283_284insACCAACA MANE Select | ENSP00000399168.2:p.Ala95AspfsTer6 | |
| ENST00000412585.6:c.283_284insACCAACA | ENSP00000399168.2:p.Ala95AspfsTer6 | |
| ENST00000434333.1:c.316_317insACCAACA | ENSP00000405931.1:p.Ala106AspfsTer6 | |
| ENST00000474381.1:n.158_159insACCAACA | ||
| ENST00000498007.1:n.304_305insACCAACA | ||
| ENST00000603274.1:n.101_102insTGTTGGT | ||
| NM_005514.6:c.283_284insACCAACA | NP_005505.2:p.Ala95AspfsTer6 | |
| XM_011514556.1:c.316_317insACCAACA | XP_011512858.1:p.Ala106AspfsTer6 | |
| XM_011514557.1:c.283_284insACCAACA | XP_011512859.1:p.Ala95AspfsTer6 | |
| XR_926175.1:n.293_294insACCAACA | ||
| NM_005514.7:c.283_284insACCAACA | NP_005505.2:p.Ala95AspfsTer6 | |
| NM_005514.8:c.283_284insACCAACA MANE Select | NP_005505.2:p.Ala95AspfsTer6 |