Linked Data
ClinVar Variation Id:
25410
dbSNP Id:
rs386134215
ExAC:
5:131726501 GGCT / G
gnomAD v2:
5-131726501-GGCT-G
gnomAD v3:
5-132390809-GGCT-G
gnomAD v4:
5-132390809-GGCT-G
MyVariant Identifiers:
chr5:g.131726510_131726512del (hg19)
chr5:g.131726502_131726504del (hg19)
chr5:g.132390818_132390820del (hg38)
chr5:g.132390810_132390812del (hg38)
PubMed:
PMID:16652335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390818_132390820del , CM000667.2:g.132390818_132390820del | GRCh38 |
| NC_000005.9:g.131726510_131726512del , CM000667.1:g.131726510_131726512del | GRCh37 |
| NC_000005.8:g.131754409_131754411del | NCBI36 |
| NG_008982.1:g.26110_26112del | |
| NG_008982.2:g.26115_26117del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1022_1024del | ENSP00000388838.2:p.Leu341del | |
| ENST00000435065.7:c.1253_1255del | ENSP00000402760.2:p.Leu418del | |
| ENST00000448810.6:c.*33_*35del | ENSP00000401860.2:n.*33_*35del | |
| ENST00000685543.1:n.1322_1324del | ||
| ENST00000686757.1:c.*345_*347del | ENSP00000510721.1:n.*345_*347del | |
| ENST00000687740.1:n.3866_3868del | ||
| ENST00000688151.1:n.2491_2493del | ||
| ENST00000689271.1:c.1028_1030del | ENSP00000510797.1:p.Leu343del | |
| ENST00000690900.1:c.*345_*347del | ENSP00000510703.1:n.*345_*347del | |
| ENST00000692212.1:n.2793_2795del | ||
| ENST00000692355.1:c.434_436del | ||
| ENST00000692413.1:c.1163_1165del | ENSP00000509374.1:p.Leu388del | |
| ENST00000692825.1:c.1249_1251del | ENSP00000509447.1:n.1249_1251del | |
| ENST00000693308.1:c.1229_1231del | ENSP00000509770.1:p.Leu410del | |
| ENST00000693763.1:n.2341_2343del | ||
| ENST00000245407.8:c.1181_1183del MANE Select | ENSP00000245407.3:p.Leu394del | |
| ENST00000245407.7:c.1181_1183del | ENSP00000245407.3:p.Leu394del | |
| ENST00000435065.6:c.1253_1255del | ENSP00000402760.2:p.Leu418del | |
| ENST00000447841.5:c.112-1615_112-1613del | ||
| ENST00000448810.5:c.443_445del | ||
| ENST00000461013.5:n.8603_8605del | ||
| ENST00000475308.1:n.1859_1861del | ||
| ENST00000479605.5:n.284_286del | ||
| NM_001308122.1:c.1253_1255del | NP_001295051.1:p.Leu418del | |
| NM_003060.3:c.1181_1183del | NP_003051.1:p.Leu394del | |
| XM_011543590.1:c.563_565del | XP_011541892.1:p.Leu188del | |
| XR_427718.1:n.1541_1543del | ||
| XR_948290.1:n.1394-1615_1394-1613del | ||
| XR_948291.1:n.1535_1537del | ||
| XM_011543590.2:c.563_565del | XP_011541892.1:p.Leu188del | |
| XM_017009778.2:c.653_655del | XP_016865267.1:p.Leu218del | |
| XR_001742215.1:n.1436_1438del | ||
| XR_001742216.1:n.1455_1457del | ||
| XR_427718.2:n.1541_1543del | ||
| XR_948290.2:n.1394-1615_1394-1613del | ||
| XR_948291.2:n.1535_1537del | ||
| NM_003060.4:c.1181_1183del MANE Select | NP_003051.1:p.Leu394del | |
| NM_001308122.2:c.1253_1255del | NP_001295051.1:p.Leu418del |