Linked Data
ClinVar Variation Id:
219096
ClinVar RCV Id:
RCV000203482
dbSNP Id:
rs864321619
MyVariant Identifiers:
chr13:g.28608263_28608283dup21 (hg19)
chr13:g.28608262_28608263insTCATATTCTCTGAAATCAACG (hg19)
chr13:g.28034126_28034146dup21 (hg38)
chr13:g.28034125_28034126insTCATATTCTCTGAAATCAACG (hg38)
PubMed:
PMID:22417203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28034127_28034147dup , CM000675.2:g.28034127_28034147dup | GRCh38 |
| NC_000013.10:g.28608264_28608284dup , CM000675.1:g.28608264_28608284dup | GRCh37 |
| NC_000013.9:g.27506264_27506284dup | NCBI36 |
| NG_007066.1:g.71423_71443dup , LRG_457:g.71423_71443dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241453.12:c.1773_1793dup MANE Select | ENSP00000241453.7:p.Tyr597_Glu598insAspVa... | |
| ENST00000241453.11:c.1773_1793dup | ENSP00000241453.7:p.Tyr597_Glu598insAspVa... | |
| ENST00000380987.2:c.1773_1793dup | ENSP00000370374.2:p.Tyr597_Glu598insAspVa... | |
| NM_004119.2:c.1773_1793dup , LRG_457t1:c.1773_1793dup | NP_004110.2:p.Tyr597_Glu598insAspValAspPh... | |
| NR_130706.1:n.1855_1875dup | ||
| XM_011535015.1:c.1716_1736dup | XP_011533317.1:p.Tyr578_Glu579insAspValAs... | |
| XM_011535016.1:c.1248_1268dup | XP_011533318.1:p.Tyr422_Glu423insAspValAs... | |
| XM_011535017.1:c.1248_1268dup | XP_011533319.1:p.Tyr422_Glu423insAspValAs... | |
| XM_011535018.1:c.1248_1268dup | XP_011533320.1:p.Tyr422_Glu423insAspValAs... | |
| XM_011535015.2:c.1716_1736dup | XP_011533317.1:p.Tyr578_Glu579insAspValAs... | |
| XM_011535017.2:c.1248_1268dup | XP_011533319.1:p.Tyr422_Glu423insAspValAs... | |
| XM_011535018.2:c.1248_1268dup | XP_011533320.1:p.Tyr422_Glu423insAspValAs... | |
| XM_017020486.1:c.1557_1577dup | XP_016875975.1:p.Tyr525_Glu526insAspValAs... | |
| XM_017020487.1:c.1248_1268dup | XP_016875976.1:p.Tyr422_Glu423insAspValAs... | |
| XM_017020488.1:c.894_914dup | XP_016875977.1:p.Tyr304_Glu305insAspValAs... | |
| XM_017020489.1:c.876_896dup | XP_016875978.1:p.Tyr298_Glu299insAspValAs... | |
| NM_004119.3:c.1773_1793dup MANE Select | NP_004110.2:p.Tyr597_Glu598insAspValAspPh... | |
| NR_130706.2:n.1839_1859dup |