Linked Data
ClinVar Variation Id:
223073
ClinVar RCV Id:
RCV000208647
dbSNP Id:
rs1064792881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526395_50526412dup , CM000684.2:g.50526395_50526412dup | GRCh38 |
| NC_000022.10:g.50964824_50964841dup , CM000684.1:g.50964824_50964841dup | GRCh37 |
| NC_000022.9:g.49311690_49311707dup | NCBI36 |
| NG_011860.1:g.8675_8692dup , LRG_727:g.8675_8692dup | |
| NG_016235.1:g.5029_5046dup | |
| NG_021419.1:g.23180_23197dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.994_1011dup (TYMP) MANE Select | ENSP00000252029.3:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| ENST00000395680.6:c.994_1011dup (TYMP) | ENSP00000379037.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| ENST00000395681.6:c.994_1011dup (TYMP) | ENSP00000379038.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| ENST00000543927.6:c.-179_-162dup (SCO2) | ENSP00000444433.1:n.-179_-162dup | |
| ENST00000650719.1:c.875_892dup (TYMP) | ENSP00000498276.1:p.Arg297_Leu298insArgGlyAlaGlyArgArg | |
| ENST00000651401.1:c.478_495dup (TYMP) | ENSP00000499115.1:p.Gly165_Ser166insAlaAlaLeuAspAspGly | |
| ENST00000652401.1:c.495_512dup (TYMP) | ||
| ENST00000252029.7:c.994_1011dup (TYMP) | ENSP00000252029.3:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| ENST00000395678.7:c.994_1011dup (TYMP) | ENSP00000379036.3:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| ENST00000395680.5:c.994_1011dup (TYMP) | ENSP00000379037.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| ENST00000395681.5:c.994_1011dup (TYMP) | ENSP00000379038.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| ENST00000423348.1:c.-179_-162dup | ENSP00000403570.1:n.-179_-162dup | |
| ENST00000425169.1:c.895_912dup (TYMP) | ENSP00000395875.1:p.Gly304_Ser305insAlaAlaLeuAspAspGly | |
| ENST00000476284.1:n.1000_1017dup (TYMP) | ||
| ENST00000487577.5:n.1281_1298dup (TYMP) | ||
| ENST00000543927.5:c.-179_-162dup | ENSP00000444433.1:n.-179_-162dup | |
| NM_001113755.2:c.994_1011dup (TYMP) | NP_001107227.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| NM_001113756.2:c.994_1011dup (TYMP) | NP_001107228.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| NM_001169109.1:c.-179_-162dup (SCO2) | NP_001162580.1:n.-179_-162dup | |
| NM_001257988.1:c.994_1011dup , LRG_727t1:c.994_1011dup (TYMP) | NP_001244917.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| NM_001257989.1:c.994_1011dup , LRG_727t2:c.994_1011dup (TYMP) | NP_001244918.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| NM_001953.4:c.994_1011dup (TYMP) | NP_001944.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| NM_001113755.3:c.994_1011dup (TYMP) | NP_001107227.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| NM_001113756.3:c.994_1011dup (TYMP) | NP_001107228.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| NM_001953.5:c.994_1011dup (TYMP) MANE Select | NP_001944.1:p.Gly337_Ser338insAlaAlaLeuAspAspGly | |
| NM_001169109.2:c.-179_-162dup (SCO2) | NP_001162580.1:n.-179_-162dup |