Linked Data
ClinVar Variation Id:
418466
dbSNP Id:
rs1064793257
gnomAD v3:
16-51138806-CAT-C
gnomAD v4:
16-51138806-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51138807_51138808del , CM000678.2:g.51138807_51138808del | GRCh38 |
| NC_000016.9:g.51172718_51172719del , CM000678.1:g.51172718_51172719del | GRCh37 |
| NC_000016.8:g.49730219_49730220del | NCBI36 |
| NG_007990.1:g.17465_17466del , LRG_674:g.17465_17466del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440970.6:c.3414_3415del | ENSP00000407914.2:p.Cys1139TrpfsTer? | |
| ENST00000570206.2:c.3123_3124del | ENSP00000456777.2:p.Cys1042TrpfsTer? | |
| ENST00000685868.1:c.3414_3415del | ENSP00000509873.1:p.Cys1139TrpfsTer? | |
| ENST00000690502.1:c.3414_3415del | ENSP00000510560.1:p.Cys1139TrpfsTer? | |
| ENST00000251020.9:c.3414_3415del MANE Select | ENSP00000251020.4:p.Cys1139TrpfsTer? | |
| ENST00000251020.8:c.3414_3415del | ENSP00000251020.4:p.Cys1139TrpfsTer? | |
| ENST00000440970.5:c.3123_3124del | ENSP00000407914.1:p.Cys1042TrpfsTer? | |
| ENST00000566102.1:c.77-1256_77-1255del | ENSP00000455582.1:n.77-1256_77-1255del | |
| ENST00000570206.1:c.3123_3124del | ENSP00000456777.1:p.Cys1042TrpfsTer? | |
| NM_001127892.1:c.3123_3124del | NP_001121364.1:p.Cys1042TrpfsTer? | |
| NM_002968.2:c.3414_3415del , LRG_674t1:c.3414_3415del | NP_002959.2:p.Cys1139TrpfsTer? | |
| XM_006721241.2:c.3414_3415del | XP_006721304.1:p.Cys1139TrpfsTer? | |
| XM_011523254.1:c.3414_3415del | XP_011521556.1:p.Cys1139TrpfsTer? | |
| XM_011523255.1:c.3414_3415del | XP_011521557.1:p.Cys1139TrpfsTer? | |
| NM_002968.3:c.3414_3415del MANE Select | NP_002959.2:p.Cys1139TrpfsTer? | |
| NM_001127892.2:c.3123_3124del | NP_001121364.1:p.Cys1042TrpfsTer? |