Linked Data
dbSNP Id:
rs1455198016
gnomAD v2:
5-7649788-TACAACCGTC-T
gnomAD v3:
5-7649675-TACAACCGTC-T
gnomAD v4:
5-7649675-TACAACCGTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7649676_7649684del , CM000667.2:g.7649676_7649684del | GRCh38 |
| NC_000005.9:g.7649789_7649797del , CM000667.1:g.7649789_7649797del | GRCh37 |
| NC_000005.8:g.7702789_7702797del | NCBI36 |
| NG_046913.1:g.258447_258455del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338316.9:c.720+23360_720+23368del MANE Select | ENSP00000342952.4:n.720+23360_720+23368de... | |
| ENST00000338316.8:c.720+23360_720+23368del | ENSP00000342952.4:n.720+23360_720+23368de... | |
| ENST00000498598.1:n.420-8350_420-8342del | ||
| ENST00000515681.1:c.87+23360_87+23368del | ENSP00000425069.1:n.87+23360_87+23368del | |
| ENST00000537121.5:c.714+23360_714+23368del | ENSP00000444803.2:n.714+23360_714+23368de... | |
| NM_020546.2:c.720+23360_720+23368del | NP_065433.2:n.720+23360_720+23368del | |
| XM_011513942.1:c.720+23360_720+23368del | XP_011512244.1:n.720+23360_720+23368del | |
| XR_427657.2:n.734+23360_734+23368del | ||
| XM_011513942.2:c.720+23360_720+23368del | XP_011512244.1:n.720+23360_720+23368del | |
| XR_001741973.1:n.734+23360_734+23368del | ||
| XR_001741974.2:n.734+23360_734+23368del | ||
| NM_020546.3:c.720+23360_720+23368del MANE Select | NP_065433.2:n.720+23360_720+23368del |