Linked Data
ClinVar Variation Id:
1057430
dbSNP Id:
rs774317818
ExAC:
6:152443751 GC / G
gnomAD v2:
6-152443751-GC-G
gnomAD v3:
6-152122616-GC-G
gnomAD v4:
6-152122616-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122617del , CM000668.2:g.152122617del | GRCh38 |
| NC_000006.11:g.152443752del , CM000668.1:g.152443752del | GRCh37 |
| NC_000006.10:g.152485445del | NCBI36 |
| NG_012855.1:g.519783del | |
| NG_008493.2:g.470927del | |
| NG_012855.2:g.519783del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.2747del (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Arg916ProfsTer? | |
| ENST00000367255.10:c.26213del (SYNE1) MANE Select | ENSP00000356224.5:p.Arg8738ProfsTer? | |
| ENST00000423061.6:c.26069del (SYNE1) | ENSP00000396024.1:p.Arg8690ProfsTer? | |
| ENST00000672154.1:c.1556del (SYNE1) | ||
| ENST00000672169.1:c.1931del (SYNE1) | ||
| ENST00000673173.1:c.1798del (SYNE1) | ||
| ENST00000673451.1:c.2063del (SYNE1) | ENSP00000500189.1:n.2063del | |
| ENST00000341594.9:c.24998del (SYNE1) | ENSP00000341887.6:p.Arg8333ProfsTer? | |
| ENST00000347037.9:n.2961del (SYNE1) | ||
| ENST00000354674.4:c.2747del (SYNE1) | ENSP00000346701.4:p.Arg916ProfsTer? | |
| ENST00000367251.7:c.4989del (SYNE1) | ENSP00000356220.3:n.4989del | |
| ENST00000367255.9:c.26213del (SYNE1) | ENSP00000356224.5:p.Arg8738ProfsTer? | |
| ENST00000367256.9:n.9905del (SYNE1) | ||
| ENST00000367257.8:c.4092del (SYNE1) | ENSP00000356226.4:n.4092del | |
| ENST00000409694.6:n.9797del (SYNE1) | ||
| ENST00000423061.5:c.26069del (SYNE1) | ENSP00000396024.1:p.Arg8690ProfsTer? | |
| ENST00000427531.6:c.851-2649del (ESR1) | ENSP00000394721.2:n.851-2649del | |
| ENST00000460912.6:n.2827del (SYNE1) | ||
| ENST00000478916.5:n.6850del (SYNE1) | ||
| ENST00000536990.5:n.2991del (SYNE1) | ||
| ENST00000539504.5:c.2678del (SYNE1) | ENSP00000441052.1:p.Arg893ProfsTer? | |
| NM_033071.3:c.26069del (SYNE1) | NP_149062.1:p.Arg8690ProfsTer? | |
| NM_182961.3:c.26213del (SYNE1) | NP_892006.3:p.Arg8738ProfsTer? | |
| XM_006715407.1:c.26360del (SYNE1) | XP_006715470.1:p.Arg8787ProfsTer? | |
| XM_006715408.1:c.26348del (SYNE1) | XP_006715471.1:p.Arg8783ProfsTer? | |
| XM_006715409.1:c.26339del (SYNE1) | XP_006715472.1:p.Arg8780ProfsTer? | |
| XM_006715410.1:c.26318del (SYNE1) | XP_006715473.1:p.Arg8773ProfsTer? | |
| XM_006715411.1:c.26309del (SYNE1) | XP_006715474.1:p.Arg8770ProfsTer? | |
| XM_006715412.1:c.26303del (SYNE1) | XP_006715475.1:p.Arg8768ProfsTer? | |
| XM_006715413.1:c.26291del (SYNE1) | XP_006715476.1:p.Arg8764ProfsTer? | |
| XM_006715414.1:c.26288del (SYNE1) | XP_006715477.1:p.Arg8763ProfsTer? | |
| XM_006715415.1:c.26249del (SYNE1) | XP_006715478.1:p.Arg8750ProfsTer? | |
| XM_006715416.1:c.26234del (SYNE1) | XP_006715479.1:p.Arg8745ProfsTer? | |
| XM_006715417.1:c.26219del (SYNE1) | XP_006715480.1:p.Arg8740ProfsTer? | |
| XM_006715420.1:c.26207del (SYNE1) | XP_006715483.1:p.Arg8736ProfsTer? | |
| XM_006715421.1:c.26204del (SYNE1) | XP_006715484.1:p.Arg8735ProfsTer? | |
| XM_006715422.1:c.26201del (SYNE1) | XP_006715485.1:p.Arg8734ProfsTer? | |
| XM_006715423.1:c.*24del (SYNE1) | XP_006715486.1:n.*24del | |
| XM_006715424.1:c.*24del (SYNE1) | XP_006715487.1:n.*24del | |
| XM_006715425.1:c.*24del (SYNE1) | XP_006715488.1:n.*24del | |
| XM_011535641.1:c.26357del (SYNE1) | XP_011533943.1:p.Arg8786ProfsTer? | |
| XM_011535642.1:c.26345del (SYNE1) | XP_011533944.1:p.Arg8782ProfsTer? | |
| XM_011535643.1:c.26195del (SYNE1) | XP_011533945.1:p.Arg8732ProfsTer? | |
| XM_011535644.1:c.24635del (SYNE1) | XP_011533946.1:p.Arg8212ProfsTer? | |
| XM_011535645.1:c.24128del (SYNE1) | XP_011533947.1:p.Arg8043ProfsTer? | |
| XM_011535647.1:c.19595del (SYNE1) | XP_011533949.1:p.Arg6532ProfsTer? | |
| NM_001328100.1:c.851-2649del (ESR1) | NP_001315029.1:n.851-2649del | |
| NM_001347701.1:c.*24del (SYNE1) | NP_001334630.1:n.*24del | |
| NM_001347702.1:c.2747del (SYNE1) | NP_001334631.1:p.Arg916ProfsTer? | |
| XM_006715408.2:c.26348del (SYNE1) | XP_006715471.1:p.Arg8783ProfsTer? | |
| XM_006715410.2:c.26318del (SYNE1) | XP_006715473.1:p.Arg8773ProfsTer? | |
| XM_006715412.2:c.26303del (SYNE1) | XP_006715475.1:p.Arg8768ProfsTer? | |
| XM_006715413.2:c.26291del (SYNE1) | XP_006715476.1:p.Arg8764ProfsTer? | |
| XM_006715415.2:c.26249del (SYNE1) | XP_006715478.1:p.Arg8750ProfsTer? | |
| XM_006715416.2:c.26234del (SYNE1) | XP_006715479.1:p.Arg8745ProfsTer? | |
| XM_006715417.2:c.26219del (SYNE1) | XP_006715480.1:p.Arg8740ProfsTer? | |
| XM_006715420.2:c.26207del (SYNE1) | XP_006715483.1:p.Arg8736ProfsTer? | |
| XM_006715421.2:c.26204del (SYNE1) | XP_006715484.1:p.Arg8735ProfsTer? | |
| XM_006715423.2:c.*24del (SYNE1) | XP_006715486.1:n.*24del | |
| XM_006715424.2:c.*24del (SYNE1) | XP_006715487.1:n.*24del | |
| XM_006715425.2:c.*24del (SYNE1) | XP_006715488.1:n.*24del | |
| XM_011535641.2:c.26357del (SYNE1) | XP_011533943.1:p.Arg8786ProfsTer? | |
| XM_011535642.2:c.26345del (SYNE1) | XP_011533944.1:p.Arg8782ProfsTer? | |
| XM_011535645.2:c.24128del (SYNE1) | XP_011533947.1:p.Arg8043ProfsTer? | |
| XM_017010608.1:c.26360del (SYNE1) | XP_016866097.1:p.Arg8787ProfsTer? | |
| XM_017010609.1:c.26360del (SYNE1) | XP_016866098.1:p.Arg8787ProfsTer? | |
| XM_017010610.1:c.26339del (SYNE1) | XP_016866099.1:p.Arg8780ProfsTer? | |
| XM_017010611.2:c.26333del (SYNE1) | XP_016866100.1:p.Arg8778ProfsTer? | |
| XM_017010612.1:c.26282del (SYNE1) | XP_016866101.1:p.Arg8761ProfsTer? | |
| XM_017010613.1:c.26246del (SYNE1) | XP_016866102.1:p.Arg8749ProfsTer? | |
| XM_017010614.1:c.26204del (SYNE1) | XP_016866103.1:p.Arg8735ProfsTer? | |
| XM_017010615.1:c.26093del (SYNE1) | XP_016866104.1:p.Arg8698ProfsTer? | |
| XM_017010616.1:c.*24del (SYNE1) | XP_016866105.1:n.*24del | |
| XM_017010617.1:c.*24del (SYNE1) | XP_016866106.1:n.*24del | |
| XM_017010618.1:c.*24del (SYNE1) | XP_016866107.1:n.*24del | |
| XM_017010619.1:c.24635del (SYNE1) | XP_016866108.1:p.Arg8212ProfsTer? | |
| NM_182961.4:c.26213del (SYNE1) MANE Select | NP_892006.3:p.Arg8738ProfsTer? | |
| NM_001328100.2:c.851-2649del (ESR1) | NP_001315029.1:n.851-2649del | |
| NM_001347701.2:c.*24del (SYNE1) | NP_001334630.1:n.*24del | |
| NM_001347702.2:c.2747del (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Arg916ProfsTer? | |
| NM_033071.5:c.26069del (SYNE1) | NP_149062.2:p.Arg8690ProfsTer? |