Canonical Allele Identifier: CA2333925902

Gene: SYNE4

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36006512_36006532delinsGCCCAAGGCCCCCAATGTCCC , CM000681.2:g.36006512_36006532delinsGCCCAAGGCCCCCAATGTCCC	GRCh38
NC_000019.9:g.36497414_36497434delinsGCCCAAGGCCCCCAATGTCCC , CM000681.1:g.36497414_36497434delinsGCCCAAGGCCCCCAATGTCCC	GRCh37
NC_000019.8:g.41189254_41189274delinsGCCCAAGGCCCCCAATGTCCC	NCBI36
NG_042831.1:g.7262_7282delinsGGGACATTGGGGGCCTTGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324444.9:c.758_778delinsGGGACATTGGGGGCCTTGGGC MANE Select	ENSP00000316130.3:p.Gly253=
ENST00000397428.8:c.67-1095_67-1075delinsGGGACATTGGGGGCCTTGGGC
ENST00000465425.2:n.870_890delinsGGGACATTGGGGGCCTTGGGC
ENST00000324444.7:c.758_778delinsGGGACATTGGGGGCCTTGGGC	ENSP00000316130.3:p.Gly253=
ENST00000340477.9:c.419_439delinsGGGACATTGGGGGCCTTGGGC	ENSP00000343152.5:p.Gly140=
ENST00000397428.7:c.40-1095_40-1075delinsGGGACATTGGGGGCCTTGGGC	ENSP00000380572.3:n.40-1095_40-1075delinsGGGACATTGGGGGCCTTGGG...
ENST00000465425.1:n.870_890delinsGGGACATTGGGGGCCTTGGGC
ENST00000490730.1:c.688+70_688+90delinsGGGACATTGGGGGCCTTGGGC	ENSP00000422716.1:n.688+70_688+90delinsGGGACATTGGGGGCCTTGGGC
ENST00000503121.5:c.242+1685_242+1705delinsGGGACATTGGGGGCCTTGGGC
ENST00000505054.2:n.395-1095_395-1075delinsGGGACATTGGGGGCCTTGGGC
NM_001039876.1:c.758_778delinsGGGACATTGGGGGCCTTGGGC	NP_001034965.1:p.Gly253=
NM_001039876.2:c.758_778delinsGGGACATTGGGGGCCTTGGGC	NP_001034965.1:p.Gly253=
NM_001297735.1:c.419_439delinsGGGACATTGGGGGCCTTGGGC	NP_001284664.1:p.Gly140=
NM_001297735.2:c.419_439delinsGGGACATTGGGGGCCTTGGGC	NP_001284664.1:p.Gly140=
XM_005258598.2:c.688+70_688+90delinsGGGACATTGGGGGCCTTGGGC	XP_005258655.1:n.688+70_688+90delinsGGGACATTGGGGGCCTTGGGC
XM_005258601.2:c.618+218_618+238delinsGGGACATTGGGGGCCTTGGGC	XP_005258658.1:n.618+218_618+238delinsGGGACATTGGGGGCCTTGGGC
XM_005258604.3:c.688+70_688+90delinsGGGACATTGGGGGCCTTGGGC	XP_005258661.1:n.688+70_688+90delinsGGGACATTGGGGGCCTTGGGC
NM_001039876.3:c.758_778delinsGGGACATTGGGGGCCTTGGGC MANE Select	NP_001034965.1:p.Gly253=
NM_001297735.3:c.419_439delinsGGGACATTGGGGGCCTTGGGC	NP_001284664.1:p.Gly140=