Linked Data
ClinVar Variation Id:
53164
ClinVar RCV Id:
RCV000577512
dbSNP Id:
rs397508141
PubMed:
PMID:17718859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117504299_117504316del , CM000669.2:g.117504299_117504316del | GRCh38 |
| NC_000007.13:g.117144353_117144370del , CM000669.1:g.117144353_117144370del | GRCh37 |
| NC_000007.12:g.116931589_116931606del | NCBI36 |
| NG_016465.4:g.43516_43533del , LRG_663:g.43516_43533del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.100_117del | ENSP00000497673.2:p.Leu34_Gln39del | |
| ENST00000647978.2:c.100_117del | ENSP00000497658.1:p.Leu34_Gln39del | |
| ENST00000649781.2:c.100_117del | ENSP00000497203.1:p.Leu34_Gln39del | |
| ENST00000649850.2:c.100_117del | ENSP00000514457.1:p.Leu34_Gln39del | |
| ENST00000685018.2:c.100_117del | ENSP00000510194.2:p.Leu34_Gln39del | |
| ENST00000687278.2:c.100_117del | ENSP00000509593.2:p.Leu34_Gln39del | |
| ENST00000693465.2:n.185_202del | ||
| ENST00000699585.1:c.100_117del | ENSP00000514456.1:p.Leu34_Gln39del | |
| ENST00000699596.1:c.100_117del | ENSP00000514465.1:p.Leu34_Gln39del | |
| ENST00000699597.1:c.100_117del | ENSP00000514466.1:p.Leu34_Gln39del | |
| ENST00000699598.1:c.100_117del | ENSP00000514467.1:p.Leu34_Gln39del | |
| ENST00000699599.1:c.100_117del | ENSP00000514468.1:p.Leu34_Gln39del | |
| ENST00000699600.1:c.100_117del | ENSP00000514469.1:p.Leu34_Gln39del | |
| ENST00000699601.1:c.100_117del | ENSP00000514470.1:p.Leu34_Gln39del | |
| ENST00000699602.1:c.100_117del | ENSP00000514471.1:p.Leu34_Gln39del | |
| ENST00000699604.1:c.100_117del | ENSP00000514472.1:p.Leu34_Gln39del | |
| ENST00000699605.1:c.-144_-127del | ENSP00000514473.1:n.-144_-127del | |
| ENST00000446805.2:c.-144_-127del | ENSP00000417012.1:n.-144_-127del | |
| ENST00000693465.1:n.170_187del | ||
| ENST00000003084.11:c.100_117del MANE Select | ENSP00000003084.6:p.Leu34_Gln39del | |
| ENST00000647639.1:n.184_201del | ||
| ENST00000647978.1:c.100_117del | ENSP00000497658.1:p.Leu34_Gln39del | |
| ENST00000648260.1:c.100_117del | ENSP00000497957.1:p.Leu34_Gln39del | |
| ENST00000649406.1:c.100_117del | ENSP00000497965.1:p.Leu34_Gln39del | |
| ENST00000649781.1:c.100_117del | ENSP00000497203.1:p.Leu34_Gln39del | |
| ENST00000649850.1:n.183_200del | ||
| ENST00000673785.1:c.-144_-127del | ENSP00000501235.1:n.-144_-127del | |
| ENST00000003084.10:c.100_117del | ENSP00000003084.6:p.Leu34_Gln39del | |
| ENST00000426809.5:c.100_117del | ENSP00000389119.1:p.Leu34_Gln39del | |
| ENST00000446805.1:c.-144_-127del | ENSP00000417012.1:n.-144_-127del | |
| NM_000492.3:c.100_117del , LRG_663t1:c.100_117del | NP_000483.3:p.Leu34_Gln39del | |
| XM_011515751.1:c.190_207del | XP_011514053.1:p.Leu64_Gln69del | |
| XM_011515752.1:c.190_207del | XP_011514054.1:p.Leu64_Gln69del | |
| XM_011515753.1:c.-144_-127del | XP_011514055.1:n.-144_-127del | |
| XM_011515754.1:c.-218_-201del | XP_011514056.1:n.-218_-201del | |
| NM_000492.4:c.100_117del MANE Select | NP_000483.3:p.Leu34_Gln39del |