Linked Data
dbSNP Id:
rs35392581
gnomAD v2:
1-15772454-C-CATTTATTCATTCACTCATGCATTT
gnomAD v3:
1-15445959-C-CATTTATTCATTCACTCATGCATTT
gnomAD v4:
1-15445959-C-CATTTATTCATTCACTCATGCATTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445962_15445963insTATTCATTCACTCATGCATTTATT , CM000663.2:g.15445962_15445963insTATTCATTCACTCATGCATTTATT | GRCh38 |
| NC_000001.10:g.15772457_15772458insTATTCATTCACTCATGCATTTATT , CM000663.1:g.15772457_15772458insTATTCATTCACTCATGCATTTATT | GRCh37 |
| NC_000001.9:g.15645044_15645045insTATTCATTCACTCATGCATTTATT | NCBI36 |
| NG_009253.1:g.12520_12521insTATTCATTCACTCATGCATTTATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792+213_792+214insTATTCATTCACTCATGCATTTATT MANE Select | ENSP00000365116.4:n.792+213_792+214insTATTCATTCACTCATGCATTTAT... | |
| ENST00000375943.6:c.*246+213_*246+214insTATTCATTCACTCATGCATTTATT | ENSP00000365110.2:n.*246+213_*246+214insTATTCATTCACTCATGCATTT... | |
| ENST00000375949.4:c.792+213_792+214insTATTCATTCACTCATGCATTTATT | ENSP00000365116.4:n.792+213_792+214insTATTCATTCACTCATGCATTTAT... | |
| ENST00000483406.1:n.556+213_556+214insTATTCATTCACTCATGCATTTATT | ||
| NM_007272.2:c.792+213_792+214insTATTCATTCACTCATGCATTTATT | NP_009203.2:n.792+213_792+214insTATTCATTCACTCATGCATTTATT | |
| XM_011540550.1:c.646+213_646+214insTATTCATTCACTCATGCATTTATT | XP_011538852.1:n.646+213_646+214insTATTCATTCACTCATGCATTTATT | |
| NM_007272.3:c.792+213_792+214insTATTCATTCACTCATGCATTTATT MANE Select | NP_009203.2:n.792+213_792+214insTATTCATTCACTCATGCATTTATT |