Canonical Allele Identifier: CA703016944

Gene: EVL

Linked Data

• dbSNP Id: rs1242199584
• MyVariant Identifiers: chr14:g.100498047_100498048insCAGATC (hg19) ; chr14:g.100031710_100031711insCAGATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100031712_100031717dup , CM000676.2:g.100031712_100031717dup	GRCh38
NC_000014.8:g.100498049_100498054dup , CM000676.1:g.100498049_100498054dup	GRCh37
NC_000014.7:g.99567802_99567807dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402714.6:c.6-52975_6-52970dup	ENSP00000384720.2:n.6-52975_6-52970dup
ENST00000544450.6:c.23+12025_23+12030dup	ENSP00000437904.2:n.23+12025_23+12030dup
ENST00000554460.5:n.112+12025_112+12030dup
XM_005267749.2:c.23+12025_23+12030dup	XP_005267806.1:n.23+12025_23+12030dup
XM_011536827.1:c.23+12025_23+12030dup	XP_011535129.1:n.23+12025_23+12030dup
XM_011536828.1:c.23+12025_23+12030dup	XP_011535130.1:n.23+12025_23+12030dup
NM_001330221.1:c.6-52975_6-52970dup	NP_001317150.1:n.6-52975_6-52970dup
XM_005267749.3:c.23+12025_23+12030dup	XP_005267806.1:n.23+12025_23+12030dup
XM_011536828.2:c.23+12025_23+12030dup	XP_011535130.1:n.23+12025_23+12030dup
XM_017021363.2:c.23+12025_23+12030dup	XP_016876852.1:n.23+12025_23+12030dup
XR_001750355.1:n.717+12025_717+12030dup
XR_001750356.1:n.717+12025_717+12030dup
XR_001750357.2:n.717+12025_717+12030dup
XR_001750360.1:n.605-52975_605-52970dup
XR_001750362.1:n.717+12025_717+12030dup
XR_001750363.1:n.717+12025_717+12030dup
XR_001750364.1:n.717+12025_717+12030dup
XR_001750366.1:n.717+12025_717+12030dup
NM_001330221.2:c.6-52975_6-52970dup	NP_001317150.1:n.6-52975_6-52970dup