Linked Data
dbSNP Id:
rs1568997482
gnomAD v2:
20-62127437-G-GTCCC
MyVariant Identifiers:
chr20:g.62127437_62127438insTCCC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63496086_63496089dup , CM000682.2:g.63496086_63496089dup | GRCh38 |
| NC_000020.10:g.62127439_62127442dup , CM000682.1:g.62127439_62127442dup | GRCh37 |
| NC_000020.9:g.61597883_61597886dup | NCBI36 |
| NG_034083.1:g.8228_8231dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706948.1:c.145-53_145-50dup | ENSP00000516668.1:n.145-53_145-50dup | |
| ENST00000706949.1:c.145-53_145-50dup | ENSP00000516669.1:n.145-53_145-50dup | |
| ENST00000217182.6:c.145-53_145-50dup MANE Select | ENSP00000217182.3:n.145-53_145-50dup | |
| ENST00000298049.12:c.145-53_145-50dup | ENSP00000298049.8:n.145-53_145-50dup | |
| ENST00000642899.1:c.145-53_145-50dup | ENSP00000493767.1:n.145-53_145-50dup | |
| ENST00000645357.1:c.145-53_145-50dup | ENSP00000494971.1:n.145-53_145-50dup | |
| ENST00000645586.1:n.2661_2664dup | ||
| ENST00000646335.1:c.145-53_145-50dup | ENSP00000494752.1:n.145-53_145-50dup | |
| ENST00000675519.1:c.145-1_147dup | ||
| ENST00000217182.4:c.145-53_145-50dup | ENSP00000217182.3:n.145-53_145-50dup | |
| ENST00000298049.11:c.145-53_145-50dup | ENSP00000298049.7:n.145-53_145-50dup | |
| NM_001958.3:c.145-53_145-50dup | NP_001949.1:n.145-53_145-50dup | |
| NM_001958.4:c.145-53_145-50dup | NP_001949.1:n.145-53_145-50dup | |
| NM_001958.5:c.145-53_145-50dup MANE Select | NP_001949.1:n.145-53_145-50dup |