Linked Data
dbSNP Id:
rs1215279903
MyVariant Identifiers:
chr19:g.13470381_13470382insCTCT (hg19)
chr19:g.13359567_13359568insCTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13359568_13359571dup , CM000681.2:g.13359568_13359571dup | GRCh38 |
| NC_000019.9:g.13470382_13470385dup , CM000681.1:g.13470382_13470385dup | GRCh37 |
| NC_000019.8:g.13331382_13331385dup | NCBI36 |
| NG_011569.1:g.151890_151893dup , LRG_7:g.151890_151893dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.978+35_978+38dup MANE Select | ENSP00000353362.5:n.978+35_978+38dup | |
| ENST00000573710.7:c.978+35_978+38dup | ENSP00000460092.3:n.978+35_978+38dup | |
| ENST00000593160.2:n.693+35_693+38dup | ||
| ENST00000635727.1:c.978+35_978+38dup | ENSP00000490001.1:n.978+35_978+38dup | |
| ENST00000635895.1:c.978+35_978+38dup | ENSP00000490323.1:n.978+35_978+38dup | |
| ENST00000636012.1:c.978+35_978+38dup | ENSP00000490223.1:n.978+35_978+38dup | |
| ENST00000636389.1:c.978+35_978+38dup | ENSP00000489992.1:n.978+35_978+38dup | |
| ENST00000636549.1:c.978+35_978+38dup | ENSP00000490578.1:n.978+35_978+38dup | |
| ENST00000636974.1:n.337+35_337+38dup | ||
| ENST00000637276.1:c.978+35_978+38dup | ENSP00000489777.1:n.978+35_978+38dup | |
| ENST00000637432.1:c.978+35_978+38dup | ENSP00000490617.1:n.978+35_978+38dup | |
| ENST00000637736.1:c.837+35_837+38dup | ENSP00000489861.1:n.837+35_837+38dup | |
| ENST00000637769.1:c.978+35_978+38dup | ENSP00000489778.1:n.978+35_978+38dup | |
| ENST00000637927.1:c.978+35_978+38dup | ENSP00000489715.1:n.978+35_978+38dup | |
| ENST00000637966.1:n.831+35_831+38dup | ||
| ENST00000638009.2:c.978+35_978+38dup | ENSP00000489913.1:n.978+35_978+38dup | |
| ENST00000638029.1:c.978+35_978+38dup | ENSP00000489829.1:n.978+35_978+38dup | |
| ENST00000664864.1:c.1173+35_1173+38dup | ENSP00000499449.1:n.1173+35_1173+38dup | |
| ENST00000360228.9:c.978+35_978+38dup | ENSP00000353362.5:n.978+35_978+38dup | |
| ENST00000573710.6:c.978+35_978+38dup | ENSP00000460092.2:n.978+35_978+38dup | |
| ENST00000593160.1:n.198+35_198+38dup | ||
| ENST00000614285.4:c.978+35_978+38dup | ENSP00000479983.1:n.978+35_978+38dup | |
| NM_000068.3:c.978+35_978+38dup | NP_000059.3:n.978+35_978+38dup | |
| NM_001127221.1:c.978+35_978+38dup , LRG_7t1:c.978+35_978+38dup | NP_001120693.1:n.978+35_978+38dup | |
| NM_001127222.1:c.978+35_978+38dup | NP_001120694.1:n.978+35_978+38dup | |
| NM_001174080.1:c.978+35_978+38dup | NP_001167551.1:n.978+35_978+38dup | |
| NM_023035.2:c.978+35_978+38dup | NP_075461.2:n.978+35_978+38dup | |
| NM_000068.4:c.978+35_978+38dup | NP_000059.3:n.978+35_978+38dup | |
| NM_001127222.2:c.978+35_978+38dup MANE Select | NP_001120694.1:n.978+35_978+38dup | |
| NM_001174080.2:c.978+35_978+38dup | NP_001167551.1:n.978+35_978+38dup | |
| NM_023035.3:c.978+35_978+38dup | NP_075461.2:n.978+35_978+38dup | |
| NM_001127221.2:c.978+35_978+38dup | NP_001120693.1:n.978+35_978+38dup |