Linked Data
dbSNP Id:
rs906265240
MyVariant Identifiers:
chr7:g.152357736_152357737insTC (hg19)
chr7:g.152660651_152660652insTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660652_152660653dup , CM000669.2:g.152660652_152660653dup | GRCh38 |
| NC_000007.13:g.152357737_152357738dup , CM000669.1:g.152357737_152357738dup | GRCh37 |
| NC_000007.12:g.151988670_151988671dup | NCBI36 |
| NG_027988.1:g.20513_20514dup | |
| NG_027988.2:g.20513_20514dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.-47-11290_-47-11289dup | ENSP00000513758.1:n.-47-11290_-47-11289du... | |
| ENST00000698507.1:n.237_238dup | ||
| ENST00000359321.2:c.121+48_121+49dup MANE Select | ENSP00000352271.1:n.121+48_121+49dup | |
| ENST00000359321.1:c.121+48_121+49dup | ENSP00000352271.1:n.121+48_121+49dup | |
| ENST00000495707.1:n.143+48_143+49dup | ||
| NM_005431.1:c.121+48_121+49dup | NP_005422.1:n.121+48_121+49dup | |
| NM_005431.2:c.121+48_121+49dup MANE Select | NP_005422.1:n.121+48_121+49dup |