Linked Data
dbSNP Id:
rs41268278
gnomAD v2:
6-32609617-A-AATGTGTCGTTACAATGTGTCGTT
gnomAD v3:
6-32641840-A-AATGTGTCGTTACAATGTGTCGTT
gnomAD v4:
6-32641840-A-AATGTGTCGTTACAATGTGTCGTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32641840_32641841insATGTGTCGTTACAATGTGTCGTT , CM000668.2:g.32641840_32641841insATGTGTCGTTACAATGTGTCGTT | GRCh38 |
| NC_000006.11:g.32609617_32609618insATGTGTCGTTACAATGTGTCGTT , CM000668.1:g.32609617_32609618insATGTGTCGTTACAATGTGTCGTT | GRCh37 |
| NC_000006.10:g.32717595_32717596insATGTGTCGTTACAATGTGTCGTT | NCBI36 |
| NG_032876.1:g.9435_9436insATGTGTCGTTACAATGTGTCGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343139.11:c.332-132_332-131insATGTGTCGTTACAATGTGTCGTT MANE Select | ENSP00000339398.5:n.332-132_332-131insATGTGTCGTTACAATGTGTCGTT... | |
| ENST00000343139.9:c.332-132_332-131insATGTGTCGTTACAATGTGTCGTT | ENSP00000339398.5:n.332-132_332-131insATGTGTCGTTACAATGTGTCGTT... | |
| ENST00000374949.2:c.332-132_332-131insATGTGTCGTTACAATGTGTCGTT | ENSP00000364087.2:n.332-132_332-131insATGTGTCGTTACAATGTGTCGTT... | |
| ENST00000395363.5:c.332-132_332-131insATGTGTCGTTACAATGTGTCGTT | ENSP00000378767.1:n.332-132_332-131insATGTGTCGTTACAATGTGTCGTT... | |
| ENST00000460633.1:n.360-132_360-131insATGTGTCGTTACAATGTGTCGTT | ||
| ENST00000482745.5:c.*1164-132_*1164-131insATGTGTCGTTACAATGTGTCGTT | ENSP00000436546.1:n.*1164-132_*1164-131insATGTGTCGTTACAATGTGT... | |
| ENST00000496318.5:c.332-132_332-131insATGTGTCGTTACAATGTGTCGTT | ENSP00000437302.1:n.332-132_332-131insATGTGTCGTTACAATGTGTCGTT... | |
| NM_002122.3:c.332-132_332-131insATGTGTCGTTACAATGTGTCGTT | NP_002113.2:n.332-132_332-131insATGTGTCGTTACAATGTGTCGTT | |
| XM_006715079.2:c.332-132_332-131insATGTGTCGTTACAATGTGTCGTT | XP_006715142.1:n.332-132_332-131insATGTGTCGTTACAATGTGTCGTT | |
| XM_006715079.4:c.332-132_332-131insATGTGTCGTTACAATGTGTCGTT | XP_006715142.1:n.332-132_332-131insATGTGTCGTTACAATGTGTCGTT | |
| XR_001744085.1:n.86+747_86+748insAACGACACATTGTAACGACACAT | ||
| NM_002122.5:c.332-132_332-131insATGTGTCGTTACAATGTGTCGTT MANE Select | NP_002113.2:n.332-132_332-131insATGTGTCGTTACAATGTGTCGTT |