Canonical Allele Identifier: CA2680831450

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152369470-CCTGGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152369473_152369478del , CM000668.2:g.152369473_152369478del	GRCh38
NC_000006.11:g.152690608_152690613del , CM000668.1:g.152690608_152690613del	GRCh37
NC_000006.10:g.152732301_152732306del	NCBI36
NG_012855.1:g.272924_272929del
NG_012855.2:g.272924_272929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000454018.7:c.997_1002del	ENSP00000390858.4:p.Leu333_Gln334del
ENST00000367255.10:c.9646_9651del MANE Select	ENSP00000356224.5:p.Leu3216_Gln3217del
ENST00000423061.6:c.9667_9672del	ENSP00000396024.1:p.Leu3223_Gln3224del
ENST00000341594.9:c.9712_9717del	ENSP00000341887.6:p.Leu3238_Gln3239del
ENST00000367255.9:c.9646_9651del	ENSP00000356224.5:p.Leu3216_Gln3217del
ENST00000423061.5:c.9667_9672del	ENSP00000396024.1:p.Leu3223_Gln3224del
ENST00000454018.6:c.994_999del	ENSP00000390858.3:p.Leu332_Gln333del
ENST00000469439.1:c.239_244del
ENST00000471834.1:n.852_857del
NM_033071.3:c.9667_9672del	NP_149062.1:p.Leu3223_Gln3224del
NM_182961.3:c.9646_9651del	NP_892006.3:p.Leu3216_Gln3217del
XM_006715407.1:c.9667_9672del	XP_006715470.1:p.Leu3223_Gln3224del
XM_006715408.1:c.9667_9672del	XP_006715471.1:p.Leu3223_Gln3224del
XM_006715409.1:c.9646_9651del	XP_006715472.1:p.Leu3216_Gln3217del
XM_006715410.1:c.9667_9672del	XP_006715473.1:p.Leu3223_Gln3224del
XM_006715411.1:c.9616_9621del	XP_006715474.1:p.Leu3206_Gln3207del
XM_006715412.1:c.9667_9672del	XP_006715475.1:p.Leu3223_Gln3224del
XM_006715413.1:c.9667_9672del	XP_006715476.1:p.Leu3223_Gln3224del
XM_006715414.1:c.9595_9600del	XP_006715477.1:p.Leu3199_Gln3200del
XM_006715415.1:c.9667_9672del	XP_006715478.1:p.Leu3223_Gln3224del
XM_006715416.1:c.9667_9672del	XP_006715479.1:p.Leu3223_Gln3224del
XM_006715417.1:c.9667_9672del	XP_006715480.1:p.Leu3223_Gln3224del
XM_006715420.1:c.9667_9672del	XP_006715483.1:p.Leu3223_Gln3224del
XM_006715421.1:c.9667_9672del	XP_006715484.1:p.Leu3223_Gln3224del
XM_006715422.1:c.9508_9513del	XP_006715485.1:p.Leu3170_Gln3171del
XM_006715423.1:c.9667_9672del	XP_006715486.1:p.Leu3223_Gln3224del
XM_006715424.1:c.9667_9672del	XP_006715487.1:p.Leu3223_Gln3224del
XM_006715425.1:c.9667_9672del	XP_006715488.1:p.Leu3223_Gln3224del
XM_011535641.1:c.9667_9672del	XP_011533943.1:p.Leu3223_Gln3224del
XM_011535642.1:c.9667_9672del	XP_011533944.1:p.Leu3223_Gln3224del
XM_011535643.1:c.9502_9507del	XP_011533945.1:p.Leu3168_Gln3169del
XM_011535644.1:c.7942_7947del	XP_011533946.1:p.Leu2648_Gln2649del
XM_011535645.1:c.7435_7440del	XP_011533947.1:p.Leu2479_Gln2480del
XM_011535646.1:c.9667_9672del	XP_011533948.1:p.Leu3223_Gln3224del
XM_011535647.1:c.2902_2907del	XP_011533949.1:p.Leu968_Gln969del
XM_006715408.2:c.9667_9672del	XP_006715471.1:p.Leu3223_Gln3224del
XM_006715410.2:c.9667_9672del	XP_006715473.1:p.Leu3223_Gln3224del
XM_006715412.2:c.9667_9672del	XP_006715475.1:p.Leu3223_Gln3224del
XM_006715413.2:c.9667_9672del	XP_006715476.1:p.Leu3223_Gln3224del
XM_006715415.2:c.9667_9672del	XP_006715478.1:p.Leu3223_Gln3224del
XM_006715416.2:c.9667_9672del	XP_006715479.1:p.Leu3223_Gln3224del
XM_006715417.2:c.9667_9672del	XP_006715480.1:p.Leu3223_Gln3224del
XM_006715420.2:c.9667_9672del	XP_006715483.1:p.Leu3223_Gln3224del
XM_006715421.2:c.9667_9672del	XP_006715484.1:p.Leu3223_Gln3224del
XM_006715423.2:c.9667_9672del	XP_006715486.1:p.Leu3223_Gln3224del
XM_006715424.2:c.9667_9672del	XP_006715487.1:p.Leu3223_Gln3224del
XM_006715425.2:c.9667_9672del	XP_006715488.1:p.Leu3223_Gln3224del
XM_011535641.2:c.9667_9672del	XP_011533943.1:p.Leu3223_Gln3224del
XM_011535642.2:c.9667_9672del	XP_011533944.1:p.Leu3223_Gln3224del
XM_011535645.2:c.7435_7440del	XP_011533947.1:p.Leu2479_Gln2480del
XM_017010608.1:c.9667_9672del	XP_016866097.1:p.Leu3223_Gln3224del
XM_017010609.1:c.9667_9672del	XP_016866098.1:p.Leu3223_Gln3224del
XM_017010610.1:c.9646_9651del	XP_016866099.1:p.Leu3216_Gln3217del
XM_017010611.2:c.9640_9645del	XP_016866100.1:p.Leu3214_Gln3215del
XM_017010612.1:c.9589_9594del	XP_016866101.1:p.Leu3197_Gln3198del
XM_017010613.1:c.9667_9672del	XP_016866102.1:p.Leu3223_Gln3224del
XM_017010614.1:c.9667_9672del	XP_016866103.1:p.Leu3223_Gln3224del
XM_017010615.1:c.9667_9672del	XP_016866104.1:p.Leu3223_Gln3224del
XM_017010616.1:c.9667_9672del	XP_016866105.1:p.Leu3223_Gln3224del
XM_017010617.1:c.9667_9672del	XP_016866106.1:p.Leu3223_Gln3224del
XM_017010618.1:c.9667_9672del	XP_016866107.1:p.Leu3223_Gln3224del
XM_017010619.1:c.7942_7947del	XP_016866108.1:p.Leu2648_Gln2649del
XR_001743287.1:n.10150_10155del
NM_182961.4:c.9646_9651del MANE Select	NP_892006.3:p.Leu3216_Gln3217del
NM_033071.5:c.9667_9672del	NP_149062.2:p.Leu3223_Gln3224del