Linked Data
ClinVar Variation Id:
371435
ClinVar RCV Id:
RCV000409761
dbSNP Id:
rs1057517269
gnomAD v2:
6-74354205-TG-T
gnomAD v4:
6-73644482-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73644483del , CM000668.2:g.73644483del | GRCh38 |
| NC_000006.11:g.74354206del , CM000668.1:g.74354206del | GRCh37 |
| NC_000006.10:g.74410927del | NCBI36 |
| NG_008272.1:g.14532del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.215del MANE Select | ENSP00000348019.5:p.Thr72LysfsTer3 | |
| ENST00000355773.5:c.215del | ENSP00000348019.5:p.Thr72LysfsTer3 | |
| NM_012434.4:c.215del | NP_036566.1:p.Thr72LysfsTer3 | |
| XM_005248710.2:c.164del | XP_005248767.1:p.Thr55LysfsTer3 | |
| XM_005248711.1:c.17del | XP_005248768.1:p.Thr6LysfsTer3 | |
| XM_011535750.1:c.215del | XP_011534052.1:p.Thr72LysfsTer3 | |
| XM_011535751.1:c.215del | XP_011534053.1:p.Thr72LysfsTer3 | |
| NM_012434.5:c.215del MANE Select | NP_036566.1:p.Thr72LysfsTer3 | |
| NM_001382629.1:c.61-2559del | NP_001369558.1:n.61-2559del | |
| NM_001382630.1:c.215del | NP_001369559.1:p.Thr72LysfsTer3 | |
| NM_001382631.1:c.236del | NP_001369560.1:p.Thr79LysfsTer3 | |
| NM_001382632.1:c.215del | NP_001369561.1:p.Thr72LysfsTer3 | |
| NM_001382633.1:c.215del | NP_001369562.1:p.Thr72LysfsTer3 | |
| NM_001382634.1:c.215del | NP_001369563.1:p.Thr72LysfsTer3 | |
| NM_001382635.1:c.215del | NP_001369564.1:p.Thr72LysfsTer3 | |
| NM_001382636.1:c.61-2559del | NP_001369565.1:n.61-2559del |