Canonical Allele Identifier: CA658821955

Gene: EVC CRMP1

Linked Data

• ClinVar Variation Id: 554077
• ClinVar RCV Id: RCV000669639
• dbSNP Id: rs1553875708
• gnomAD v4: 4-5752986-CAGA-C
• MyVariant Identifiers: chr4:g.5752989_5752991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5752989_5752991del , CM000666.2:g.5752989_5752991del	GRCh38
NC_000004.11:g.5754716_5754718del , CM000666.1:g.5754716_5754718del	GRCh37
NC_000004.10:g.5805617_5805619del	NCBI36
NG_008843.1:g.46793_46795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.1252_1254del (EVC) MANE Select	ENSP00000264956.6:p.Lys418del
ENST00000264956.10:c.1252_1254del (EVC)	ENSP00000264956.6:p.Lys418del
ENST00000506216.5:n.1648-4677_1648-4675del (CRMP1)
ENST00000509451.1:c.1252_1254del (EVC)	ENSP00000426774.1:p.Lys418del
ENST00000514919.1:n.315_317del (EVC)
NM_001306090.1:c.1252_1254del (EVC)	NP_001293019.1:p.Lys418del
NM_001306092.1:c.1252_1254del (EVC)	NP_001293021.1:p.Lys418del
NM_153717.2:c.1252_1254del (EVC)	NP_714928.1:p.Lys418del
XM_006713865.2:c.1252_1254del (EVC)	XP_006713928.1:p.Lys418del
XM_006713866.2:c.1252_1254del (EVC)	XP_006713929.1:p.Lys418del
XM_011513419.1:c.1252_1254del (EVC)	XP_011511721.1:p.Lys418del
XR_427473.2:n.1442_1444del (EVC)
XR_427475.2:n.1442_1444del (EVC)
XR_427476.2:n.1442_1444del (EVC)
XR_924920.1:n.1442_1444del (EVC)
XR_924921.1:n.1442_1444del (EVC)
XR_924922.1:n.1442_1444del (EVC)
XR_924923.1:n.1442_1444del (EVC)
XR_924924.1:n.1442_1444del (EVC)
XR_924925.1:n.1442_1444del (EVC)
XR_924926.1:n.1442_1444del (EVC)
XR_924927.1:n.1442_1444del (EVC)
XR_924928.1:n.1444_1446del (EVC)
XM_006713865.3:c.1252_1254del (EVC)	XP_006713928.1:p.Lys418del
XM_006713866.3:c.1252_1254del (EVC)	XP_006713929.1:p.Lys418del
XM_011513419.2:c.1252_1254del (EVC)	XP_011511721.1:p.Lys418del
XM_017007883.2:c.1252_1254del (EVC)	XP_016863372.1:p.Lys418del
XR_001741164.1:n.1432_1434del (EVC)
XR_001741165.1:n.1432_1434del (EVC)
XR_001741166.1:n.1432_1434del (EVC)
XR_001741167.1:n.1432_1434del (EVC)
XR_001741168.1:n.1432_1434del (EVC)
XR_001741169.2:n.1296_1298del (EVC)
XR_001741170.1:n.1434_1436del (EVC)
XR_001741171.1:n.737_739del (EVC)
XR_427473.3:n.1432_1434del (EVC)
XR_427475.3:n.1432_1434del (EVC)
XR_427476.3:n.1432_1434del (EVC)
XR_924920.2:n.1432_1434del (EVC)
XR_924921.2:n.1432_1434del (EVC)
XR_924922.2:n.1432_1434del (EVC)
XR_924924.2:n.1432_1434del (EVC)
XR_924925.2:n.1432_1434del (EVC)
XR_924926.2:n.1432_1434del (EVC)
NM_153717.3:c.1252_1254del (EVC) MANE Select	NP_714928.1:p.Lys418del
NM_001306090.2:c.1252_1254del (EVC)	NP_001293019.1:p.Lys418del
NM_001306092.2:c.1252_1254del (EVC)	NP_001293021.1:p.Lys418del