Linked Data
dbSNP Id:
rs2076549658
gnomAD v3:
1-209649891-ATTCAGTG-A
gnomAD v4:
1-209649891-ATTCAGTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209649892_209649898del , CM000663.2:g.209649892_209649898del | GRCh38 |
| NC_000001.10:g.209823237_209823243del , CM000663.1:g.209823237_209823243del | GRCh37 |
| NC_000001.9:g.207889860_207889866del | NCBI36 |
| NG_007116.1:g.7578_7584del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.183+66_183+72del MANE Select | ENSP00000348384.3:n.183+66_183+72del | |
| ENST00000356082.8:c.183+66_183+72del | ENSP00000348384.3:n.183+66_183+72del | |
| ENST00000367030.7:c.183+66_183+72del | ENSP00000355997.3:n.183+66_183+72del | |
| ENST00000391911.5:c.183+66_183+72del | ENSP00000375778.1:n.183+66_183+72del | |
| ENST00000415782.1:c.183+66_183+72del | ENSP00000388960.1:n.183+66_183+72del | |
| NM_000228.2:c.183+66_183+72del | NP_000219.2:n.183+66_183+72del | |
| NM_001017402.1:c.183+66_183+72del | NP_001017402.1:n.183+66_183+72del | |
| NM_001127641.1:c.183+66_183+72del | NP_001121113.1:n.183+66_183+72del | |
| XM_005273124.3:c.183+66_183+72del | XP_005273181.1:n.183+66_183+72del | |
| XM_005273124.4:c.183+66_183+72del | XP_005273181.1:n.183+66_183+72del | |
| XM_017001272.2:c.183+66_183+72del | XP_016856761.1:n.183+66_183+72del | |
| NM_000228.3:c.183+66_183+72del MANE Select | NP_000219.2:n.183+66_183+72del | |
| NM_001017402.2:c.183+66_183+72del | NP_001017402.1:n.183+66_183+72del |