Linked Data
dbSNP Id:
rs67386185
gnomAD v3:
3-143707369-TACACACACACAC-T
gnomAD v4:
3-143707369-TACACACACACAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143707390_143707401del , CM000665.2:g.143707390_143707401del | GRCh38 |
| NC_000003.11:g.143426232_143426243del , CM000665.1:g.143426232_143426243del | GRCh37 |
| NC_000003.10:g.144908922_144908933del | NCBI36 |
| NG_017077.1:g.146151_146162del | |
| NG_017077.2:g.146151_146162del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.534-14074_534-14063del MANE Select | ENSP00000320246.6:n.534-14074_534-14063del | |
| ENST00000316549.10:c.534-14074_534-14063del | ENSP00000320246.6:n.534-14074_534-14063del | |
| ENST00000474727.2:c.*145-14074_*145-14063del | ENSP00000419090.2:n.*145-14074_*145-14063del | |
| NM_173653.3:c.534-14074_534-14063del | NP_775924.1:n.534-14074_534-14063del | |
| XM_011512704.1:c.534-14074_534-14063del | XP_011511006.1:n.534-14074_534-14063del | |
| XM_011512704.3:c.534-14074_534-14063del | XP_011511006.1:n.534-14074_534-14063del | |
| XM_017006202.2:c.534-14074_534-14063del | XP_016861691.1:n.534-14074_534-14063del | |
| XM_017006203.1:c.183-14074_183-14063del | XP_016861692.1:n.183-14074_183-14063del | |
| NM_173653.4:c.534-14074_534-14063del MANE Select | NP_775924.1:n.534-14074_534-14063del |