Linked Data
ClinVar Variation Id:
6414
ClinVar RCV Id:
RCV000006783
dbSNP Id:
rs1554087461
PubMed:
PMID:9826541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385328_132385329insTATGGCCATCAGGTTGGAG , CM000667.2:g.132385328_132385329insTATGGCCATCAGGTTGGAG | GRCh38 |
| NC_000005.9:g.131721020_131721021insTATGGCCATCAGGTTGGAG , CM000667.1:g.131721020_131721021insTATGGCCATCAGGTTGGAG | GRCh37 |
| NC_000005.8:g.131748919_131748920insTATGGCCATCAGGTTGGAG | NCBI36 |
| NG_008982.1:g.20620_20621insTATGGCCATCAGGTTGGAG | |
| NG_008982.2:g.20625_20626insTATGGCCATCAGGTTGGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.665+1014_665+1015insTATGGCCATCAGGTTGGAG | ENSP00000388838.2:n.665+1014_665+1015insTATGGCCATCAGGTTGGAG | |
| ENST00000435065.7:c.725_726insTATGGCCATCAGGTTGGAG | ENSP00000402760.2:p.Thr243MetfsTer? | |
| ENST00000448810.6:c.653_654insTATGGCCATCAGGTTGGAG | ENSP00000401860.2:p.Thr219MetfsTer? | |
| ENST00000686757.1:c.672_673insTATGGCCATCAGGTTGGAG | ENSP00000510721.1:p.Asp225TyrfsTer17 | |
| ENST00000687740.1:n.1813_1814insTATGGCCATCAGGTTGGAG | ||
| ENST00000688151.1:n.1845_1846insTATGGCCATCAGGTTGGAG | ||
| ENST00000689271.1:c.671+1008_671+1009insTATGGCCATCAGGTTGGAG | ENSP00000510797.1:n.671+1008_671+1009insTATGGCCATCAGGTTGGAG | |
| ENST00000690900.1:c.672-48_672-47insTATGGCCATCAGGTTGGAG | ENSP00000510703.1:n.672-48_672-47insTATGGCCATCAGGTTGGAG | |
| ENST00000692212.1:n.479_480insTATGGCCATCAGGTTGGAG | ||
| ENST00000692355.1:c.204+1027_204+1028insTATGGCCATCAGGTTGGAG | ||
| ENST00000692413.1:c.672_673insTATGGCCATCAGGTTGGAG | ENSP00000509374.1:p.Asp225TyrfsTer17 | |
| ENST00000692825.1:c.721_722insTATGGCCATCAGGTTGGAG | ENSP00000509447.1:n.721_722insTATGGCCATCAGGTTGGAG | |
| ENST00000693308.1:c.666_667insTATGGCCATCAGGTTGGAG | ENSP00000509770.1:p.Asp223TyrfsTer17 | |
| ENST00000693763.1:n.1813_1814insTATGGCCATCAGGTTGGAG | ||
| ENST00000245407.8:c.653_654insTATGGCCATCAGGTTGGAG MANE Select | ENSP00000245407.3:p.Thr219MetfsTer? | |
| ENST00000245407.7:c.653_654insTATGGCCATCAGGTTGGAG | ENSP00000245407.3:p.Thr219MetfsTer? | |
| ENST00000415928.5:c.422_423insTATGGCCATCAGGTTGGAG | ENSP00000388838.1:p.Thr142MetfsTer? | |
| ENST00000435065.6:c.725_726insTATGGCCATCAGGTTGGAG | ENSP00000402760.2:p.Thr243MetfsTer? | |
| ENST00000437841.6:c.394_395insTATGGCCATCAGGTTGGAG | ENSP00000400553.1:p.Gly132ValfsTer? | |
| ENST00000448810.5:c.1_2insTATGGCCATCAGGTTGGAG | ||
| ENST00000461013.5:n.8075_8076insTATGGCCATCAGGTTGGAG | ||
| NM_001308122.1:c.725_726insTATGGCCATCAGGTTGGAG | NP_001295051.1:p.Thr243MetfsTer? | |
| NM_003060.3:c.653_654insTATGGCCATCAGGTTGGAG | NP_003051.1:p.Thr219MetfsTer? | |
| XM_011543590.1:c.35_36insTATGGCCATCAGGTTGGAG | XP_011541892.1:p.Thr13MetfsTer? | |
| XR_427718.1:n.1013_1014insTATGGCCATCAGGTTGGAG | ||
| XR_948290.1:n.994_995insTATGGCCATCAGGTTGGAG | ||
| XR_948291.1:n.1007_1008insTATGGCCATCAGGTTGGAG | ||
| XM_011543590.2:c.35_36insTATGGCCATCAGGTTGGAG | XP_011541892.1:p.Thr13MetfsTer? | |
| XM_017009778.2:c.125_126insTATGGCCATCAGGTTGGAG | XP_016865267.1:p.Thr43MetfsTer? | |
| XR_001742215.1:n.994_995insTATGGCCATCAGGTTGGAG | ||
| XR_001742216.1:n.1013_1014insTATGGCCATCAGGTTGGAG | ||
| XR_427718.2:n.1013_1014insTATGGCCATCAGGTTGGAG | ||
| XR_948290.2:n.994_995insTATGGCCATCAGGTTGGAG | ||
| XR_948291.2:n.1007_1008insTATGGCCATCAGGTTGGAG | ||
| NM_003060.4:c.653_654insTATGGCCATCAGGTTGGAG MANE Select | NP_003051.1:p.Thr219MetfsTer? | |
| NM_001308122.2:c.725_726insTATGGCCATCAGGTTGGAG | NP_001295051.1:p.Thr243MetfsTer? |