Linked Data
dbSNP Id:
rs371320476
ExAC:
6:42937584 AC / A
gnomAD v2:
6-42937584-AC-A
gnomAD v3:
6-42969846-AC-A
gnomAD v4:
6-42969846-AC-A
MyVariant Identifiers:
chr6:g.42937585del (hg19)
chr6:g.42969848del (hg38)
chr6:g.42969847del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969851del , CM000668.2:g.42969851del | GRCh38 |
| NC_000006.11:g.42937589del , CM000668.1:g.42937589del | GRCh37 |
| NC_000006.10:g.43045567del | NCBI36 |
| NG_008370.1:g.14397del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1233+38del MANE Select | ENSP00000303511.8:n.1233+38del | |
| ENST00000244546.4:c.1233+38del | ENSP00000244546.4:n.1233+38del | |
| ENST00000304611.12:c.1233+38del | ENSP00000303511.8:n.1233+38del | |
| NM_000287.3:c.1233+38del | NP_000278.3:n.1233+38del | |
| NM_001316313.1:c.969+38del | NP_001303242.1:n.969+38del | |
| NR_133009.1:n.1326+38del | ||
| XM_011514661.1:c.1149+38del | XP_011512963.1:n.1149+38del | |
| XR_926246.1:n.1326+38del | ||
| XM_011514661.2:c.1149+38del | XP_011512963.1:n.1149+38del | |
| XR_001743466.2:n.2307+38del | ||
| NM_000287.4:c.1233+38del MANE Select | NP_000278.3:n.1233+38del | |
| NM_001316313.2:c.969+38del | NP_001303242.1:n.969+38del | |
| NR_133009.2:n.1264+38del |