Linked Data
dbSNP Id:
rs751739072
ExAC:
22:50659136 CAT / C
gnomAD v2:
22-50659136-CAT-C
gnomAD v3:
22-50220707-CAT-C
gnomAD v4:
22-50220707-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220708_50220709del , CM000684.2:g.50220708_50220709del | GRCh38 |
| NC_000022.10:g.50659137_50659138del , CM000684.1:g.50659137_50659138del | GRCh37 |
| NC_000022.9:g.49001264_49001265del | NCBI36 |
| NG_032160.1:g.29263_29264del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3650_3651del MANE Select | ENSP00000248846.5:p.His1217ArgfsTer3 | |
| ENST00000248846.9:c.3650_3651del | ENSP00000248846.5:p.His1217ArgfsTer3 | |
| ENST00000439308.6:c.3650_3651del | ENSP00000397387.2:p.His1217ArgfsTer3 | |
| ENST00000491449.5:n.1957_1958del | ||
| ENST00000498611.5:n.3617+566_3617+567del | ||
| NM_020461.3:c.3650_3651del | NP_065194.2:p.His1217ArgfsTer3 | |
| XR_938347.1:n.4215_4216del | ||
| XR_938348.1:n.3050-694_3050-693del | ||
| XR_001755343.2:n.4219_4220del | ||
| XR_001755344.2:n.4219_4220del | ||
| XR_002958720.1:n.3054-694_3054-693del | ||
| XR_938347.2:n.4219_4220del | ||
| NM_020461.4:c.3650_3651del MANE Select | NP_065194.3:p.His1217ArgfsTer3 |