Linked Data
ClinVar Variation Id:
211236
ClinVar RCV Id:
RCV000194164
RCV000234792
RCV000414259
RCV000990332
RCV001002283
RCV000678098
RCV001381685
RCV001836639
RCV003315329
dbSNP Id:
rs118192212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63439614_63439616del , CM000682.2:g.63439614_63439616del | GRCh38 |
| NC_000020.10:g.62070967_62070969del , CM000682.1:g.62070967_62070969del | GRCh37 |
| NC_000020.9:g.61541411_61541413del | NCBI36 |
| NG_009004.1:g.38029_38031del | |
| NG_009004.2:g.38029_38031del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.913_915del | ENSP00000516702.1:p.Phe305del | |
| ENST00000344425.8:c.913_915del | ENSP00000345523.5:p.Phe305del | |
| ENST00000359125.7:c.913_915del MANE Select | ENSP00000352035.2:p.Phe305del | |
| ENST00000636255.1:n.651_653del | ||
| ENST00000637193.1:c.394_396del | ENSP00000490734.1:p.Phe132del | |
| ENST00000344425.7:c.913_915del | ENSP00000345523.5:p.Phe305del | |
| ENST00000344462.8:c.913_915del | ENSP00000339611.4:p.Phe305del | |
| ENST00000357249.6:c.571_573del | ENSP00000349789.3:p.Phe191del | |
| ENST00000359125.6:c.913_915del | ENSP00000352035.2:p.Phe305del | |
| ENST00000360480.7:c.913_915del | ENSP00000353668.3:p.Phe305del | |
| ENST00000370221.3:n.1039_1041del | ||
| ENST00000370224.5:c.913_915del | ENSP00000359244.2:p.Phe305del | |
| ENST00000625514.2:c.913_915del | ENSP00000486040.1:p.Phe305del | |
| ENST00000626684.1:c.278_280del | ||
| ENST00000626839.2:c.913_915del | ENSP00000486706.1:p.Phe305del | |
| ENST00000627221.2:c.57_59del | ||
| ENST00000629241.2:c.913_915del | ENSP00000487142.1:p.Phe305del | |
| ENST00000629498.2:c.416_418del | ENSP00000486509.1:p.Leu139del | |
| ENST00000629676.2:c.913_915del | ENSP00000486194.1:p.Phe305del | |
| ENST00000630274.2:n.738_740del | ||
| NM_004518.4:c.913_915del | NP_004509.2:p.Phe305del | |
| NM_172106.1:c.913_915del | NP_742104.1:p.Phe305del | |
| NM_172107.2:c.913_915del | NP_742105.1:p.Phe305del | |
| NM_172108.3:c.913_915del | NP_742106.1:p.Phe305del | |
| NM_172109.1:c.913_915del | NP_742107.1:p.Phe305del | |
| XM_006723787.1:c.913_915del | XP_006723850.1:p.Phe305del | |
| XM_011528807.1:c.913_915del | XP_011527109.1:p.Phe305del | |
| XM_011528808.1:c.913_915del | XP_011527110.1:p.Phe305del | |
| XM_011528809.1:c.913_915del | XP_011527111.1:p.Phe305del | |
| XM_011528810.1:c.913_915del | XP_011527112.1:p.Phe305del | |
| XM_011528811.1:c.913_915del | XP_011527113.1:p.Phe305del | |
| XM_011528812.1:c.913_915del | XP_011527114.1:p.Phe305del | |
| XM_011528813.1:c.787_789del | XP_011527115.1:p.Phe263del | |
| XM_011528814.1:c.394_396del | XP_011527116.1:p.Phe132del | |
| XM_011528815.1:c.913_915del | XP_011527117.1:p.Phe305del | |
| XM_011528816.1:c.913_915del | XP_011527118.1:p.Phe305del | |
| NM_004518.5:c.913_915del | NP_004509.2:p.Phe305del | |
| NM_172106.2:c.913_915del | NP_742104.1:p.Phe305del | |
| NM_172107.3:c.913_915del | NP_742105.1:p.Phe305del | |
| NM_172108.4:c.913_915del | NP_742106.1:p.Phe305del | |
| NM_172109.2:c.913_915del | NP_742107.1:p.Phe305del | |
| XM_011528810.2:c.913_915del | XP_011527112.1:p.Phe305del | |
| XM_011528811.2:c.913_915del | XP_011527113.1:p.Phe305del | |
| XM_017027841.2:c.913_915del | XP_016883330.1:p.Phe305del | |
| XM_017027842.2:c.913_915del | XP_016883331.1:p.Phe305del | |
| XM_017027843.1:c.844_846del | XP_016883332.1:p.Phe282del | |
| XM_017027844.2:c.913_915del | XP_016883333.1:p.Phe305del | |
| NM_004518.6:c.913_915del | NP_004509.2:p.Phe305del | |
| NM_172106.3:c.913_915del | NP_742104.1:p.Phe305del | |
| NM_172107.4:c.913_915del MANE Select | NP_742105.1:p.Phe305del | |
| NM_172108.5:c.913_915del | NP_742106.1:p.Phe305del | |
| NM_172109.3:c.913_915del | NP_742107.1:p.Phe305del | |
| NM_001382235.1:c.913_915del | NP_001369164.1:p.Phe305del |