Canonical Allele Identifier: CA826736

Gene: TOE1

Linked Data

• ClinVar Variation Id: 524117
• ClinVar RCV Id: RCV000477688 ; RCV000627613
• dbSNP Id: rs780563835
• ExAC: 1:45808778 CCA / C
• gnomAD v2: 1-45808778-CCA-C
• gnomAD v3: 1-45343106-CCA-C
• gnomAD v4: 1-45343106-CCA-C
• MyVariant Identifiers: chr1:g.45808781_45808782del (hg19) ; chr1:g.45808779_45808780del (hg19) ; chr1:g.45343109_45343110del (hg38) ; chr1:g.45343108_45343109del (hg38) ; chr1:g.45343107_45343108del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45343109_45343110del , CM000663.2:g.45343109_45343110del	GRCh38
NC_000001.10:g.45808781_45808782del , CM000663.1:g.45808781_45808782del	GRCh37
NC_000001.9:g.45581368_45581369del	NCBI36
NG_008189.1:g.2363_2364del , LRG_220:g.2363_2364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372090.6:c.940_941del MANE Select	ENSP00000361162.5:p.Gln314ValfsTer8
ENST00000671898.1:c.541-8597_541-8596del	ENSP00000499896.1:n.541-8597_541-8596del
ENST00000372090.5:c.940_941del	ENSP00000361162.5:p.Gln314ValfsTer8
ENST00000495703.5:n.1318_1319del
NM_025077.3:c.940_941del	NP_079353.3:p.Gln314ValfsTer8
XM_005270412.2:c.958_959del	XP_005270469.1:p.Gln320ValfsTer8
XM_005270413.3:c.802_803del	XP_005270470.1:p.Gln268ValfsTer8
XM_011540569.1:c.559_560del	XP_011538871.1:p.Gln187ValfsTer8
XR_246230.2:n.1325_1326del
XR_426587.2:n.1145_1146del
XR_946532.1:n.1141_1142del
XM_005270412.4:c.958_959del	XP_005270469.1:p.Gln320ValfsTer8
XM_005270413.5:c.802_803del	XP_005270470.1:p.Gln268ValfsTer8
XM_011540569.3:c.559_560del	XP_011538871.1:p.Gln187ValfsTer8
XM_024452837.1:c.889_890del	XP_024308605.1:p.Gln297ValfsTer8
XR_001736951.2:n.1231_1232del
XR_002959287.1:n.1637_1638del
XR_246230.4:n.1235_1236del
XR_426587.4:n.1145_1146del
XR_946532.3:n.1141_1142del
NM_025077.4:c.940_941del MANE Select	NP_079353.3:p.Gln314ValfsTer8