Linked Data
dbSNP Id:
rs1413657991
gnomAD v2:
5-127597361-A-AT
gnomAD v3:
5-128261669-A-AT
gnomAD v4:
5-128261669-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128261669_128261670insT , CM000667.2:g.128261669_128261670insT | GRCh38 |
| NC_000005.9:g.127597361_127597362insT , CM000667.1:g.127597361_127597362insT | GRCh37 |
| NC_000005.8:g.127625260_127625261insT | NCBI36 |
| NG_008750.1:g.281374_281375insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8364+66_8364+67insA MANE Select | ENSP00000262464.4:n.8364+66_8364+67insA | |
| ENST00000262464.8:c.8364+66_8364+67insA | ENSP00000262464.4:n.8364+66_8364+67insA | |
| ENST00000508053.5:c.8364+66_8364+67insA | ENSP00000424571.1:n.8364+66_8364+67insA | |
| ENST00000619499.4:c.8361+66_8361+67insA | ENSP00000482132.1:n.8361+66_8361+67insA | |
| NM_001999.3:c.8364+66_8364+67insA | NP_001990.2:n.8364+66_8364+67insA | |
| XM_017009228.2:c.8211+66_8211+67insA | XP_016864717.1:n.8211+66_8211+67insA | |
| NM_001999.4:c.8364+66_8364+67insA MANE Select | NP_001990.2:n.8364+66_8364+67insA |