Canonical Allele Identifier: CA1139658417

Gene: EVC CRMP1

Linked Data

• ClinVar Variation Id: 966504
• ClinVar RCV Id: RCV001241196
• dbSNP Id: rs1730623318

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5752994_5752996delinsAGTT , CM000666.2:g.5752994_5752996delinsAGTT	GRCh38
NC_000004.11:g.5754721_5754723delinsAGTT , CM000666.1:g.5754721_5754723delinsAGTT	GRCh37
NC_000004.10:g.5805622_5805624delinsAGTT	NCBI36
NG_008843.1:g.46798_46800delinsAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.1257_1259delinsAGTT (EVC) MANE Select	ENSP00000264956.6:p.Glu420ValfsTer?
ENST00000264956.10:c.1257_1259delinsAGTT (EVC)	ENSP00000264956.6:p.Glu420ValfsTer?
ENST00000506216.5:n.1648-4684_1648-4682delinsAACT (CRMP1)
ENST00000509451.1:c.1257_1259delinsAGTT (EVC)	ENSP00000426774.1:p.Glu420ValfsTer?
ENST00000514919.1:n.320_322delinsAGTT (EVC)
NM_001306090.1:c.1257_1259delinsAGTT (EVC)	NP_001293019.1:p.Glu420ValfsTer?
NM_001306092.1:c.1257_1259delinsAGTT (EVC)	NP_001293021.1:p.Glu420ValfsTer?
NM_153717.2:c.1257_1259delinsAGTT (EVC)	NP_714928.1:p.Glu420ValfsTer?
XM_006713865.2:c.1257_1259delinsAGTT (EVC)	XP_006713928.1:p.Glu420ValfsTer?
XM_006713866.2:c.1257_1259delinsAGTT (EVC)	XP_006713929.1:p.Glu420ValfsTer?
XM_011513419.1:c.1257_1259delinsAGTT (EVC)	XP_011511721.1:p.Glu420ValfsTer?
XR_427473.2:n.1447_1449delinsAGTT (EVC)
XR_427475.2:n.1447_1449delinsAGTT (EVC)
XR_427476.2:n.1447_1449delinsAGTT (EVC)
XR_924920.1:n.1447_1449delinsAGTT (EVC)
XR_924921.1:n.1447_1449delinsAGTT (EVC)
XR_924922.1:n.1447_1449delinsAGTT (EVC)
XR_924923.1:n.1447_1449delinsAGTT (EVC)
XR_924924.1:n.1447_1449delinsAGTT (EVC)
XR_924925.1:n.1447_1449delinsAGTT (EVC)
XR_924926.1:n.1447_1449delinsAGTT (EVC)
XR_924927.1:n.1447_1449delinsAGTT (EVC)
XR_924928.1:n.1449_1451delinsAGTT (EVC)
XM_006713865.3:c.1257_1259delinsAGTT (EVC)	XP_006713928.1:p.Glu420ValfsTer?
XM_006713866.3:c.1257_1259delinsAGTT (EVC)	XP_006713929.1:p.Glu420ValfsTer?
XM_011513419.2:c.1257_1259delinsAGTT (EVC)	XP_011511721.1:p.Glu420ValfsTer?
XM_017007883.2:c.1257_1259delinsAGTT (EVC)	XP_016863372.1:p.Glu420ValfsTer?
XR_001741164.1:n.1437_1439delinsAGTT (EVC)
XR_001741165.1:n.1437_1439delinsAGTT (EVC)
XR_001741166.1:n.1437_1439delinsAGTT (EVC)
XR_001741167.1:n.1437_1439delinsAGTT (EVC)
XR_001741168.1:n.1437_1439delinsAGTT (EVC)
XR_001741169.2:n.1301_1303delinsAGTT (EVC)
XR_001741170.1:n.1439_1441delinsAGTT (EVC)
XR_001741171.1:n.742_744delinsAGTT (EVC)
XR_427473.3:n.1437_1439delinsAGTT (EVC)
XR_427475.3:n.1437_1439delinsAGTT (EVC)
XR_427476.3:n.1437_1439delinsAGTT (EVC)
XR_924920.2:n.1437_1439delinsAGTT (EVC)
XR_924921.2:n.1437_1439delinsAGTT (EVC)
XR_924922.2:n.1437_1439delinsAGTT (EVC)
XR_924924.2:n.1437_1439delinsAGTT (EVC)
XR_924925.2:n.1437_1439delinsAGTT (EVC)
XR_924926.2:n.1437_1439delinsAGTT (EVC)
NM_153717.3:c.1257_1259delinsAGTT (EVC) MANE Select	NP_714928.1:p.Glu420ValfsTer?
NM_001306090.2:c.1257_1259delinsAGTT (EVC)	NP_001293019.1:p.Glu420ValfsTer?
NM_001306092.2:c.1257_1259delinsAGTT (EVC)	NP_001293021.1:p.Glu420ValfsTer?