Linked Data
dbSNP Id:
rs1461540214
gnomAD v2:
5-13753655-TC-T
gnomAD v3:
5-13753546-TC-T
gnomAD v4:
5-13753546-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753550del , CM000667.2:g.13753550del | GRCh38 |
| NC_000005.9:g.13753659del , CM000667.1:g.13753659del | GRCh37 |
| NC_000005.8:g.13806659del | NCBI36 |
| NG_013081.1:g.195934del | |
| NG_013081.2:g.195934del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10558del | ||
| ENST00000681290.1:c.10513del | ||
| ENST00000265104.4:c.10558del | ||
| NM_001369.2:c.10558del | ||
| XM_005248262.2:c.10513del | ||
| XM_005248262.3:c.10666del | ||
| XM_017009177.1:c.10666del | ||
| XM_017009178.1:c.9571del | ||
| XM_017009179.2:c.9571del | ||
| XM_017009180.1:c.10666del | ||
| XM_017009181.1:c.10666del | ||
| XM_017009182.1:c.10666del | ||
| XM_017009185.1:c.5755del | ||
| XM_017009186.1:c.5308del | ||
| XM_017009188.1:c.4645del | ||
| XM_024454388.1:c.9571del | ||
| XM_024454389.1:c.9160del | ||
| NM_001369.3:c.10558del |