Linked Data
dbSNP Id:
rs777617137
ExAC:
7:65554065 CCT / C
gnomAD v2:
7-65554065-CCT-C
gnomAD v4:
7-66089078-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66089081_66089082del , CM000669.2:g.66089081_66089082del | GRCh38 |
| NC_000007.13:g.65554068_65554069del , CM000669.1:g.65554068_65554069del | GRCh37 |
| NC_000007.12:g.65191503_65191504del | NCBI36 |
| NG_009288.1:g.18293_18294del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.834-10_834-9del MANE Select | ENSP00000307188.9:n.834-10_834-9del | |
| ENST00000362000.10:c.639-10_639-9del | ENSP00000354710.6:n.639-10_639-9del | |
| ENST00000380839.9:c.756-10_756-9del | ENSP00000370219.4:n.756-10_756-9del | |
| ENST00000395331.4:c.834-10_834-9del | ENSP00000378740.3:n.834-10_834-9del | |
| ENST00000395332.8:c.834-10_834-9del | ENSP00000378741.3:n.834-10_834-9del | |
| ENST00000488343.2:c.3-10_3-9del | ENSP00000500864.1:n.3-10_3-9del | |
| ENST00000671817.1:c.756-10_756-9del | ENSP00000500462.1:n.756-10_756-9del | |
| ENST00000672498.1:c.*133-10_*133-9del | ENSP00000500227.1:n.*133-10_*133-9del | |
| ENST00000672586.1:n.1593-10_1593-9del | ||
| ENST00000672676.1:n.1858-10_1858-9del | ||
| ENST00000673149.1:n.646-10_646-9del | ||
| ENST00000673350.1:n.2951-10_2951-9del | ||
| ENST00000673518.1:c.756-10_756-9del | ENSP00000499889.1:n.756-10_756-9del | |
| ENST00000304874.13:c.834-10_834-9del | ENSP00000307188.9:n.834-10_834-9del | |
| ENST00000362000.9:c.639-10_639-9del | ENSP00000354710.5:n.639-10_639-9del | |
| ENST00000380839.8:c.756-10_756-9del | ENSP00000370219.4:n.756-10_756-9del | |
| ENST00000395331.3:c.834-10_834-9del | ENSP00000378740.3:n.834-10_834-9del | |
| ENST00000395332.7:c.834-10_834-9del | ENSP00000378741.3:n.834-10_834-9del | |
| ENST00000450043.2:c.147-10_147-9del | ENSP00000396527.2:n.147-10_147-9del | |
| ENST00000493708.5:n.215-10_215-9del | ||
| NM_000048.3:c.834-10_834-9del | NP_000039.2:n.834-10_834-9del | |
| NM_001024943.1:c.834-10_834-9del | NP_001020114.1:n.834-10_834-9del | |
| NM_001024944.1:c.834-10_834-9del | NP_001020115.1:n.834-10_834-9del | |
| NM_001024946.1:c.756-10_756-9del | NP_001020117.1:n.756-10_756-9del | |
| NM_000048.4:c.834-10_834-9del MANE Select | NP_000039.2:n.834-10_834-9del | |
| NM_001024943.2:c.834-10_834-9del | NP_001020114.1:n.834-10_834-9del | |
| NM_001024944.2:c.834-10_834-9del | NP_001020115.1:n.834-10_834-9del | |
| NM_001024946.2:c.756-10_756-9del | NP_001020117.1:n.756-10_756-9del |