Linked Data
ClinVar Variation Id:
53596
dbSNP Id:
rs397508459
MyVariant Identifiers:
chr7:g.117246735_117246736delinsAT (hg19)
chr7:g.117606681_117606682delinsAT (hg38)
PubMed:
PMID:9272157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117606681_117606682delinsAT , CM000669.2:g.117606681_117606682delinsAT | GRCh38 |
| NC_000007.13:g.117246735_117246736delinsAT , CM000669.1:g.117246735_117246736delinsAT | GRCh37 |
| NC_000007.12:g.117033971_117033972delinsAT | NCBI36 |
| NG_016465.4:g.145898_145899delinsAT , LRG_663:g.145898_145899delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2916_2917delinsAT | ENSP00000497673.2:p.Leu973Phe | |
| ENST00000647978.2:c.*2630_*2631delinsAT | ENSP00000497658.1:n.*2630_*2631delinsAT | |
| ENST00000649781.2:c.2733_2734delinsAT | ENSP00000497203.1:p.Leu912Phe | |
| ENST00000685018.2:c.2916_2917delinsAT | ENSP00000510194.2:p.Leu973Phe | |
| ENST00000687278.2:c.2916_2917delinsAT | ENSP00000509593.2:p.Leu973Phe | |
| ENST00000699585.1:c.2916_2917delinsAT | ENSP00000514456.1:p.Leu973Phe | |
| ENST00000699598.1:c.2916_2917delinsAT | ENSP00000514467.1:p.Leu973Phe | |
| ENST00000699599.1:c.2916_2917delinsAT | ENSP00000514468.1:p.Leu973Phe | |
| ENST00000699600.1:c.2916_2917delinsAT | ENSP00000514469.1:p.Leu973Phe | |
| ENST00000699601.1:c.*1216_*1217delinsAT | ENSP00000514470.1:n.*1216_*1217delinsAT | |
| ENST00000699602.1:c.2916_2917delinsAT | ENSP00000514471.1:p.Leu973Phe | |
| ENST00000699604.1:c.*2740_*2741delinsAT | ENSP00000514472.1:n.*2740_*2741delinsAT | |
| ENST00000699605.1:c.2490_2491delinsAT | ENSP00000514473.1:p.Leu831Phe | |
| ENST00000687278.1:c.507_508delinsAT | ENSP00000509593.1:p.Leu170Phe | |
| ENST00000003084.11:c.2916_2917delinsAT MANE Select | ENSP00000003084.6:p.Leu973Phe | |
| ENST00000647720.1:c.566_567delinsAT | ||
| ENST00000648260.1:c.1698_1699delinsAT | ENSP00000497957.1:p.Leu567Phe | |
| ENST00000649406.1:c.2733_2734delinsAT | ENSP00000497965.1:p.Leu912Phe | |
| ENST00000649781.1:c.2733_2734delinsAT | ENSP00000497203.1:p.Leu912Phe | |
| ENST00000003084.10:c.2916_2917delinsAT | ENSP00000003084.6:p.Leu973Phe | |
| ENST00000426809.5:c.2826_2827delinsAT | ENSP00000389119.1:p.Leu943Phe | |
| NM_000492.3:c.2916_2917delinsAT , LRG_663t1:c.2916_2917delinsAT | NP_000483.3:p.Leu973Phe | |
| XM_011515751.1:c.3006_3007delinsAT | XP_011514053.1:p.Leu1003Phe | |
| XM_011515752.1:c.3006_3007delinsAT | XP_011514054.1:p.Leu1003Phe | |
| XM_011515753.1:c.2673_2674delinsAT | XP_011514055.1:p.Leu892Phe | |
| XM_011515754.1:c.2673_2674delinsAT | XP_011514056.1:p.Leu892Phe | |
| NM_000492.4:c.2916_2917delinsAT MANE Select | NP_000483.3:p.Leu973Phe |