Linked Data
gnomAD v4:
7-19117066-CGCCGCCGCCGCCACA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117070_19117084del , CM000669.2:g.19117070_19117084del | GRCh38 |
| NC_000007.13:g.19156693_19156707del , CM000669.1:g.19156693_19156707del | GRCh37 |
| NC_000007.12:g.19123218_19123232del | NCBI36 |
| NG_008114.1:g.5592_5606del | |
| NG_008114.2:g.5592_5606del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.241_255del MANE Select | ENSP00000242261.5:p.Cys81_Gly85del | |
| ENST00000242261.5:c.241_255del | ENSP00000242261.5:p.Cys81_Gly85del | |
| ENST00000354571.5:c.38_52del | ||
| NM_000474.3:c.241_255del | NP_000465.1:p.Cys81_Gly85del | |
| XM_011515496.1:c.241_255del | XP_011513798.1:p.Cys81_Gly85del | |
| NR_149001.1:n.592_606del | ||
| NM_000474.4:c.241_255del MANE Select | NP_000465.1:p.Cys81_Gly85del | |
| NR_149001.2:n.556_570del |