Linked Data
gnomAD v4:
3-119414419-CTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414420_119414422del , CM000665.2:g.119414420_119414422del | GRCh38 |
| NC_000003.11:g.119133267_119133269del , CM000665.1:g.119133267_119133269del | GRCh37 |
| NC_000003.10:g.120615957_120615959del | NCBI36 |
| NG_007665.2:g.125048_125050del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2491_2493del MANE Select | ENSP00000264245.4:p.Ser831del | |
| ENST00000264245.8:c.2491_2493del | ENSP00000264245.4:p.Ser831del | |
| NM_020754.3:c.2491_2493del | NP_065805.2:p.Ser831del | |
| XM_005247671.3:c.2398_2400del | XP_005247728.1:p.Ser800del | |
| XM_006713714.2:c.2431_2433del | XP_006713777.1:p.Ser811del | |
| XM_006713714.3:c.2431_2433del | XP_006713777.1:p.Ser811del | |
| XM_017006955.1:c.1999_2001del | XP_016862444.1:p.Ser667del | |
| NM_020754.4:c.2491_2493del MANE Select | NP_065805.2:p.Ser831del |