Linked Data
dbSNP Id:
rs768637055
ExAC:
6:32411032 CATA / C
gnomAD v2:
6-32411032-CATA-C
gnomAD v4:
6-32443255-CATA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443256_32443258del , CM000668.2:g.32443256_32443258del | GRCh38 |
| NC_000006.11:g.32411033_32411035del , CM000668.1:g.32411033_32411035del | GRCh37 |
| NC_000006.10:g.32519011_32519013del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.400_402del MANE Select | ENSP00000378786.2:p.Ile134del | |
| ENST00000374982.5:c.329-4_329-2del | ENSP00000364121.5:n.329-4_329-2del | |
| ENST00000395388.6:c.400_402del | ENSP00000378786.2:p.Ile134del | |
| NM_019111.4:c.400_402del | NP_061984.2:p.Ile134del | |
| NM_019111.5:c.400_402del MANE Select | NP_061984.2:p.Ile134del |