Linked Data
gnomAD v2:
6-31239286-G-GATCACAGACCGGGAGACTCGGGGCGA
gnomAD v3:
6-31271509-G-GATCACAGACCGGGAGACTCGGGGCGA
gnomAD v4:
6-31271509-G-GATCACAGACCGGGAGACTCGGGGCGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271512_31271513insACAGACCGGGAGACTCGGGGCGAATC , CM000668.2:g.31271512_31271513insACAGACCGGGAGACTCGGGGCGAATC | GRCh38 |
| NC_000006.11:g.31239289_31239290insACAGACCGGGAGACTCGGGGCGAATC , CM000668.1:g.31239289_31239290insACAGACCGGGAGACTCGGGGCGAATC | GRCh37 |
| NC_000006.10:g.31347268_31347269insACAGACCGGGAGACTCGGGGCGAATC | NCBI36 |
| NG_029422.2:g.5622_5623insTCGCCCCGAGTCTCCCGGTCTGTGAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.343+89_343+90insTCGCCCCGAGTCTCCCGGTCTGTGAT MANE Select | ENSP00000365402.5:n.343+89_343+90insTCGCC... | |
| ENST00000376228.9:c.343+89_343+90insTCGCCCCGAGTCTCCCGGTCTGTGAT | ENSP00000365402.5:n.343+89_343+90insTCGCC... | |
| ENST00000376237.8:c.343+89_343+90insTCGCCCCGAGTCTCCCGGTCTGTGAT | ENSP00000365412.4:n.343+89_343+90insTCGCC... | |
| ENST00000383329.7:c.343+89_343+90insTCGCCCCGAGTCTCCCGGTCTGTGAT | ENSP00000372819.3:n.343+89_343+90insTCGCC... | |
| ENST00000415537.1:c.341+89_341+90insTCGCCCCGAGTCTCCCGGTCTGTGAT | ||
| ENST00000484378.1:n.451_452insTCGCCCCGAGTCTCCCGGTCTGTGAT | ||
| ENST00000487245.5:n.541_542insTCGCCCCGAGTCTCCCGGTCTGTGAT | ||
| ENST00000495835.1:n.532+89_532+90insTCGCCCCGAGTCTCCCGGTCTGTGAT | ||
| NM_002117.5:c.343+89_343+90insTCGCCCCGAGTCTCCCGGTCTGTGAT | NP_002108.4:n.343+89_343+90insTCGCCCCGAGT... | |
| NM_002117.6:c.343+89_343+90insTCGCCCCGAGTCTCCCGGTCTGTGAT MANE Select | NP_002108.4:n.343+89_343+90insTCGCCCCGAGT... |