Linked Data
dbSNP Id:
rs1229407922
gnomAD v2:
6-152443579-G-GACC
gnomAD v4:
6-152122444-G-GACC
MyVariant Identifiers:
chr6:g.152443579_152443580insACC (hg19)
chr6:g.152122444_152122445insACC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152122445_152122446insCCA , CM000668.2:g.152122445_152122446insCCA | GRCh38 |
| NC_000006.11:g.152443580_152443581insCCA , CM000668.1:g.152443580_152443581insCCA | GRCh37 |
| NC_000006.10:g.152485273_152485274insCCA | NCBI36 |
| NG_012855.1:g.519955_519956insGGT | |
| NG_008493.2:g.470755_470756insCCA | |
| NG_012855.2:g.519955_519956insGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2919_2920insGGT (SYNE1) MANE Plus Clinical | ENSP00000346701.4:p.Pro973_Pro974insGly | |
| ENST00000367255.10:c.26385_26386insGGT (SYNE1) MANE Select | ENSP00000356224.5:p.Pro8795_Pro8796insGly | |
| ENST00000423061.6:c.26241_26242insGGT (SYNE1) | ENSP00000396024.1:p.Pro8747_Pro8748insGly | |
| ENST00000672154.1:c.1728_1729insGGT (SYNE1) | ||
| ENST00000672169.1:c.2103_2104insGGT (SYNE1) | ||
| ENST00000673173.1:c.1970_1971insGGT (SYNE1) | ||
| ENST00000673451.1:c.2235_2236insGGT (SYNE1) | ENSP00000500189.1:n.2235_2236insGGT | |
| ENST00000341594.9:c.25170_25171insGGT (SYNE1) | ENSP00000341887.6:p.Pro8390_Pro8391insGly | |
| ENST00000347037.9:n.3133_3134insGGT (SYNE1) | ||
| ENST00000354674.4:c.2919_2920insGGT (SYNE1) | ENSP00000346701.4:p.Pro973_Pro974insGly | |
| ENST00000367251.7:c.5161_5162insGGT (SYNE1) | ENSP00000356220.3:n.5161_5162insGGT | |
| ENST00000367255.9:c.26385_26386insGGT (SYNE1) | ENSP00000356224.5:p.Pro8795_Pro8796insGly | |
| ENST00000367256.9:n.10077_10078insGGT (SYNE1) | ||
| ENST00000367257.8:c.4264_4265insGGT (SYNE1) | ENSP00000356226.4:n.4264_4265insGGT | |
| ENST00000409694.6:n.9969_9970insGGT (SYNE1) | ||
| ENST00000423061.5:c.26241_26242insGGT (SYNE1) | ENSP00000396024.1:p.Pro8747_Pro8748insGly | |
| ENST00000427531.6:c.851-2821_851-2820insCCA (ESR1) | ENSP00000394721.2:n.851-2821_851-2820insCCA | |
| ENST00000460912.6:n.2999_3000insGGT (SYNE1) | ||
| ENST00000478916.5:n.7022_7023insGGT (SYNE1) | ||
| ENST00000539504.5:c.2850_2851insGGT (SYNE1) | ENSP00000441052.1:p.Pro950_Pro951insGly | |
| NM_033071.3:c.26241_26242insGGT (SYNE1) | NP_149062.1:p.Pro8747_Pro8748insGly | |
| NM_182961.3:c.26385_26386insGGT (SYNE1) | NP_892006.3:p.Pro8795_Pro8796insGly | |
| XM_006715407.1:c.26532_26533insGGT (SYNE1) | XP_006715470.1:p.Pro8844_Pro8845insGly | |
| XM_006715408.1:c.26520_26521insGGT (SYNE1) | XP_006715471.1:p.Pro8840_Pro8841insGly | |
| XM_006715409.1:c.26511_26512insGGT (SYNE1) | XP_006715472.1:p.Pro8837_Pro8838insGly | |
| XM_006715410.1:c.26490_26491insGGT (SYNE1) | XP_006715473.1:p.Pro8830_Pro8831insGly | |
| XM_006715411.1:c.26481_26482insGGT (SYNE1) | XP_006715474.1:p.Pro8827_Pro8828insGly | |
| XM_006715412.1:c.26475_26476insGGT (SYNE1) | XP_006715475.1:p.Pro8825_Pro8826insGly | |
| XM_006715413.1:c.26463_26464insGGT (SYNE1) | XP_006715476.1:p.Pro8821_Pro8822insGly | |
| XM_006715414.1:c.26460_26461insGGT (SYNE1) | XP_006715477.1:p.Pro8820_Pro8821insGly | |
| XM_006715415.1:c.26421_26422insGGT (SYNE1) | XP_006715478.1:p.Pro8807_Pro8808insGly | |
| XM_006715416.1:c.26406_26407insGGT (SYNE1) | XP_006715479.1:p.Pro8802_Pro8803insGly | |
| XM_006715417.1:c.26391_26392insGGT (SYNE1) | XP_006715480.1:p.Pro8797_Pro8798insGly | |
| XM_006715420.1:c.26379_26380insGGT (SYNE1) | XP_006715483.1:p.Pro8793_Pro8794insGly | |
| XM_006715421.1:c.26376_26377insGGT (SYNE1) | XP_006715484.1:p.Pro8792_Pro8793insGly | |
| XM_006715422.1:c.26373_26374insGGT (SYNE1) | XP_006715485.1:p.Pro8791_Pro8792insGly | |
| XM_006715423.1:c.*196_*197insGGT (SYNE1) | XP_006715486.1:n.*196_*197insGGT | |
| XM_006715424.1:c.*196_*197insGGT (SYNE1) | XP_006715487.1:n.*196_*197insGGT | |
| XM_006715425.1:c.*196_*197insGGT (SYNE1) | XP_006715488.1:n.*196_*197insGGT | |
| XM_011535641.1:c.26529_26530insGGT (SYNE1) | XP_011533943.1:p.Pro8843_Pro8844insGly | |
| XM_011535642.1:c.26517_26518insGGT (SYNE1) | XP_011533944.1:p.Pro8839_Pro8840insGly | |
| XM_011535643.1:c.26367_26368insGGT (SYNE1) | XP_011533945.1:p.Pro8789_Pro8790insGly | |
| XM_011535644.1:c.24807_24808insGGT (SYNE1) | XP_011533946.1:p.Pro8269_Pro8270insGly | |
| XM_011535645.1:c.24300_24301insGGT (SYNE1) | XP_011533947.1:p.Pro8100_Pro8101insGly | |
| XM_011535647.1:c.19767_19768insGGT (SYNE1) | XP_011533949.1:p.Pro6589_Pro6590insGly | |
| NM_001328100.1:c.851-2821_851-2820insCCA (ESR1) | NP_001315029.1:n.851-2821_851-2820insCCA | |
| NM_001347701.1:c.*196_*197insGGT (SYNE1) | NP_001334630.1:n.*196_*197insGGT | |
| NM_001347702.1:c.2919_2920insGGT (SYNE1) | NP_001334631.1:p.Pro973_Pro974insGly | |
| XM_006715408.2:c.26520_26521insGGT (SYNE1) | XP_006715471.1:p.Pro8840_Pro8841insGly | |
| XM_006715410.2:c.26490_26491insGGT (SYNE1) | XP_006715473.1:p.Pro8830_Pro8831insGly | |
| XM_006715412.2:c.26475_26476insGGT (SYNE1) | XP_006715475.1:p.Pro8825_Pro8826insGly | |
| XM_006715413.2:c.26463_26464insGGT (SYNE1) | XP_006715476.1:p.Pro8821_Pro8822insGly | |
| XM_006715415.2:c.26421_26422insGGT (SYNE1) | XP_006715478.1:p.Pro8807_Pro8808insGly | |
| XM_006715416.2:c.26406_26407insGGT (SYNE1) | XP_006715479.1:p.Pro8802_Pro8803insGly | |
| XM_006715417.2:c.26391_26392insGGT (SYNE1) | XP_006715480.1:p.Pro8797_Pro8798insGly | |
| XM_006715420.2:c.26379_26380insGGT (SYNE1) | XP_006715483.1:p.Pro8793_Pro8794insGly | |
| XM_006715421.2:c.26376_26377insGGT (SYNE1) | XP_006715484.1:p.Pro8792_Pro8793insGly | |
| XM_006715423.2:c.*196_*197insGGT (SYNE1) | XP_006715486.1:n.*196_*197insGGT | |
| XM_006715424.2:c.*196_*197insGGT (SYNE1) | XP_006715487.1:n.*196_*197insGGT | |
| XM_006715425.2:c.*196_*197insGGT (SYNE1) | XP_006715488.1:n.*196_*197insGGT | |
| XM_011535641.2:c.26529_26530insGGT (SYNE1) | XP_011533943.1:p.Pro8843_Pro8844insGly | |
| XM_011535642.2:c.26517_26518insGGT (SYNE1) | XP_011533944.1:p.Pro8839_Pro8840insGly | |
| XM_011535645.2:c.24300_24301insGGT (SYNE1) | XP_011533947.1:p.Pro8100_Pro8101insGly | |
| XM_017010608.1:c.26532_26533insGGT (SYNE1) | XP_016866097.1:p.Pro8844_Pro8845insGly | |
| XM_017010609.1:c.26532_26533insGGT (SYNE1) | XP_016866098.1:p.Pro8844_Pro8845insGly | |
| XM_017010610.1:c.26511_26512insGGT (SYNE1) | XP_016866099.1:p.Pro8837_Pro8838insGly | |
| XM_017010611.2:c.26505_26506insGGT (SYNE1) | XP_016866100.1:p.Pro8835_Pro8836insGly | |
| XM_017010612.1:c.26454_26455insGGT (SYNE1) | XP_016866101.1:p.Pro8818_Pro8819insGly | |
| XM_017010613.1:c.26418_26419insGGT (SYNE1) | XP_016866102.1:p.Pro8806_Pro8807insGly | |
| XM_017010614.1:c.26376_26377insGGT (SYNE1) | XP_016866103.1:p.Pro8792_Pro8793insGly | |
| XM_017010615.1:c.26265_26266insGGT (SYNE1) | XP_016866104.1:p.Pro8755_Pro8756insGly | |
| XM_017010616.1:c.*196_*197insGGT (SYNE1) | XP_016866105.1:n.*196_*197insGGT | |
| XM_017010617.1:c.*196_*197insGGT (SYNE1) | XP_016866106.1:n.*196_*197insGGT | |
| XM_017010618.1:c.*196_*197insGGT (SYNE1) | XP_016866107.1:n.*196_*197insGGT | |
| XM_017010619.1:c.24807_24808insGGT (SYNE1) | XP_016866108.1:p.Pro8269_Pro8270insGly | |
| NM_182961.4:c.26385_26386insGGT (SYNE1) MANE Select | NP_892006.3:p.Pro8795_Pro8796insGly | |
| NM_001328100.2:c.851-2821_851-2820insCCA (ESR1) | NP_001315029.1:n.851-2821_851-2820insCCA | |
| NM_001347701.2:c.*196_*197insGGT (SYNE1) | NP_001334630.1:n.*196_*197insGGT | |
| NM_001347702.2:c.2919_2920insGGT (SYNE1) MANE Plus Clinical | NP_001334631.1:p.Pro973_Pro974insGly | |
| NM_033071.5:c.26241_26242insGGT (SYNE1) | NP_149062.2:p.Pro8747_Pro8748insGly |