Canonical Allele Identifier: CA2599006636

Gene: EVL

Linked Data

• dbSNP Id: rs2140218402
• gnomAD v3: 14-100031607-GTCTT-G
• gnomAD v4: 14-100031607-GTCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100031610_100031613del , CM000676.2:g.100031610_100031613del	GRCh38
NC_000014.8:g.100497947_100497950del , CM000676.1:g.100497947_100497950del	GRCh37
NC_000014.7:g.99567700_99567703del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402714.6:c.6-53077_6-53074del	ENSP00000384720.2:n.6-53077_6-53074del
ENST00000544450.6:c.23+11923_23+11926del	ENSP00000437904.2:n.23+11923_23+11926del
ENST00000554460.5:n.112+11923_112+11926del
XM_005267749.2:c.23+11923_23+11926del	XP_005267806.1:n.23+11923_23+11926del
XM_011536827.1:c.23+11923_23+11926del	XP_011535129.1:n.23+11923_23+11926del
XM_011536828.1:c.23+11923_23+11926del	XP_011535130.1:n.23+11923_23+11926del
NM_001330221.1:c.6-53077_6-53074del	NP_001317150.1:n.6-53077_6-53074del
XM_005267749.3:c.23+11923_23+11926del	XP_005267806.1:n.23+11923_23+11926del
XM_011536828.2:c.23+11923_23+11926del	XP_011535130.1:n.23+11923_23+11926del
XM_017021363.2:c.23+11923_23+11926del	XP_016876852.1:n.23+11923_23+11926del
XR_001750355.1:n.717+11923_717+11926del
XR_001750356.1:n.717+11923_717+11926del
XR_001750357.2:n.717+11923_717+11926del
XR_001750360.1:n.605-53077_605-53074del
XR_001750362.1:n.717+11923_717+11926del
XR_001750363.1:n.717+11923_717+11926del
XR_001750364.1:n.717+11923_717+11926del
XR_001750366.1:n.717+11923_717+11926del
NM_001330221.2:c.6-53077_6-53074del	NP_001317150.1:n.6-53077_6-53074del