Canonical Allele Identifier: CA2586973689

Gene: EVC CRMP1

Linked Data

• ClinVar Variation Id: 2924063
• ClinVar RCV Id: RCV003785813 ; RCV003893384

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5753006_5753015del , CM000666.2:g.5753006_5753015del	GRCh38
NC_000004.11:g.5754733_5754742del , CM000666.1:g.5754733_5754742del	GRCh37
NC_000004.10:g.5805634_5805643del	NCBI36
NG_008843.1:g.46810_46819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.1269_1278del (EVC) MANE Select	ENSP00000264956.6:p.Gln424ArgfsTer?
ENST00000264956.10:c.1269_1278del (EVC)	ENSP00000264956.6:p.Gln424ArgfsTer?
ENST00000506216.5:n.1648-4700_1648-4691del (CRMP1)
ENST00000509451.1:c.1269_1278del (EVC)	ENSP00000426774.1:p.Gln424ArgfsTer?
ENST00000514919.1:n.332_341del (EVC)
NM_001306090.1:c.1269_1278del (EVC)	NP_001293019.1:p.Gln424ArgfsTer?
NM_001306092.1:c.1269_1278del (EVC)	NP_001293021.1:p.Gln424ArgfsTer?
NM_153717.2:c.1269_1278del (EVC)	NP_714928.1:p.Gln424ArgfsTer?
XM_006713865.2:c.1269_1278del (EVC)	XP_006713928.1:p.Gln424ArgfsTer?
XM_006713866.2:c.1269_1278del (EVC)	XP_006713929.1:p.Gln424ArgfsTer?
XM_011513419.1:c.1269_1278del (EVC)	XP_011511721.1:p.Gln424ArgfsTer?
XR_427473.2:n.1459_1468del (EVC)
XR_427475.2:n.1459_1468del (EVC)
XR_427476.2:n.1459_1468del (EVC)
XR_924920.1:n.1459_1468del (EVC)
XR_924921.1:n.1459_1468del (EVC)
XR_924922.1:n.1459_1468del (EVC)
XR_924923.1:n.1459_1468del (EVC)
XR_924924.1:n.1459_1468del (EVC)
XR_924925.1:n.1459_1468del (EVC)
XR_924926.1:n.1459_1468del (EVC)
XR_924927.1:n.1459_1468del (EVC)
XR_924928.1:n.1461_1470del (EVC)
XM_006713865.3:c.1269_1278del (EVC)	XP_006713928.1:p.Gln424ArgfsTer?
XM_006713866.3:c.1269_1278del (EVC)	XP_006713929.1:p.Gln424ArgfsTer?
XM_011513419.2:c.1269_1278del (EVC)	XP_011511721.1:p.Gln424ArgfsTer?
XM_017007883.2:c.1269_1278del (EVC)	XP_016863372.1:p.Gln424ArgfsTer?
XR_001741164.1:n.1449_1458del (EVC)
XR_001741165.1:n.1449_1458del (EVC)
XR_001741166.1:n.1449_1458del (EVC)
XR_001741167.1:n.1449_1458del (EVC)
XR_001741168.1:n.1449_1458del (EVC)
XR_001741169.2:n.1313_1322del (EVC)
XR_001741170.1:n.1451_1460del (EVC)
XR_001741171.1:n.754_763del (EVC)
XR_427473.3:n.1449_1458del (EVC)
XR_427475.3:n.1449_1458del (EVC)
XR_427476.3:n.1449_1458del (EVC)
XR_924920.2:n.1449_1458del (EVC)
XR_924921.2:n.1449_1458del (EVC)
XR_924922.2:n.1449_1458del (EVC)
XR_924924.2:n.1449_1458del (EVC)
XR_924925.2:n.1449_1458del (EVC)
XR_924926.2:n.1449_1458del (EVC)
NM_153717.3:c.1269_1278del (EVC) MANE Select	NP_714928.1:p.Gln424ArgfsTer?
NM_001306090.2:c.1269_1278del (EVC)	NP_001293019.1:p.Gln424ArgfsTer?
NM_001306092.2:c.1269_1278del (EVC)	NP_001293021.1:p.Gln424ArgfsTer?