Canonical Allele Identifier: CA658797843

Gene: ETV6

Linked Data

• ClinVar Variation Id: 504142
• ClinVar RCV Id: RCV000599499
• dbSNP Id: rs1555147704
• MyVariant Identifiers: chr12:g.12038906_12038929dup (hg19) ; chr12:g.11885972_11885995dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885972_11885995dup , CM000674.2:g.11885972_11885995dup	GRCh38
NC_000012.11:g.12038906_12038929dup , CM000674.1:g.12038906_12038929dup	GRCh37
NC_000012.10:g.11930173_11930196dup	NCBI36
NG_011443.1:g.241119_241142dup , LRG_609:g.241119_241142dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1199_1222dup MANE Select	ENSP00000379658.3:p.Ile407_Arg408insAsnTyrTyrLysLeuAsnIleIle
ENST00000266427.3:c.36_59dup
ENST00000396373.8:c.1199_1222dup	ENSP00000379658.3:p.Ile407_Arg408insAsnTyrTyrLysLeuAsnIleIle
NM_001987.4:c.1199_1222dup , LRG_609t1:c.1199_1222dup	NP_001978.1:p.Ile407_Arg408insAsnTyrTyrLysLeuAsnIleIle
XM_011520607.1:c.1196_1219dup	XP_011518909.1:p.Ile406_Arg407insAsnTyrTyrLysLeuAsnIleIle
XM_011520608.1:c.1172_1195dup	XP_011518910.1:p.Ile398_Arg399insAsnTyrTyrLysLeuAsnIleIle
XM_011520609.1:c.935_958dup	XP_011518911.1:p.Ile319_Arg320insAsnTyrTyrLysLeuAsnIleIle
XM_011520610.1:c.935_958dup	XP_011518912.1:p.Ile319_Arg320insAsnTyrTyrLysLeuAsnIleIle
XM_011520611.1:c.935_958dup	XP_011518913.1:p.Ile319_Arg320insAsnTyrTyrLysLeuAsnIleIle
XM_011520612.1:c.578_601dup	XP_011518914.1:p.Ile200_Arg201insAsnTyrTyrLysLeuAsnIleIle
XM_011520607.2:c.1196_1219dup	XP_011518909.1:p.Ile406_Arg407insAsnTyrTyrLysLeuAsnIleIle
XM_011520608.2:c.1172_1195dup	XP_011518910.1:p.Ile398_Arg399insAsnTyrTyrLysLeuAsnIleIle
XM_011520609.2:c.935_958dup	XP_011518911.1:p.Ile319_Arg320insAsnTyrTyrLysLeuAsnIleIle
XM_011520611.2:c.935_958dup	XP_011518913.1:p.Ile319_Arg320insAsnTyrTyrLysLeuAsnIleIle
XM_011520612.2:c.578_601dup	XP_011518914.1:p.Ile200_Arg201insAsnTyrTyrLysLeuAsnIleIle
XM_017018990.1:c.1064_1087dup	XP_016874479.1:p.Ile362_Arg363insAsnTyrTyrLysLeuAsnIleIle
XM_017018991.1:c.935_958dup	XP_016874480.1:p.Ile319_Arg320insAsnTyrTyrLysLeuAsnIleIle
NM_001987.5:c.1199_1222dup MANE Select	NP_001978.1:p.Ile407_Arg408insAsnTyrTyrLysLeuAsnIleIle