Canonical Allele Identifier: CA2499217317

Linked Data

ClinVar Variation Id: 1074895
ClinVar RCV Id: RCV001388340
dbSNP Id: rs2152076745

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5753027_5753028delinsAA , CM000666.2:g.5753027_5753028delinsAA GRCh38
NC_000004.11:g.5754754_5754755delinsAA , CM000666.1:g.5754754_5754755delinsAA GRCh37
NC_000004.10:g.5805655_5805656delinsAA NCBI36
NG_008843.1:g.46831_46832delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.1290_1291delinsAA (EVC) MANE Select ENSP00000264956.6:p.Trp430Ter
ENST00000264956.10:c.1290_1291delinsAA (EVC) ENSP00000264956.6:p.Trp430Ter
ENST00000506216.5:n.1648-4716_1648-4715delinsTT (CRMP1)
ENST00000509451.1:c.1290_1291delinsAA (EVC) ENSP00000426774.1:p.Trp430Ter
ENST00000514919.1:n.353_354delinsAA (EVC)
NM_001306090.1:c.1290_1291delinsAA (EVC) NP_001293019.1:p.Trp430Ter
NM_001306092.1:c.1290_1291delinsAA (EVC) NP_001293021.1:p.Trp430Ter
NM_153717.2:c.1290_1291delinsAA (EVC) NP_714928.1:p.Trp430Ter
XM_006713865.2:c.1290_1291delinsAA (EVC) XP_006713928.1:p.Trp430Ter
XM_006713866.2:c.1290_1291delinsAA (EVC) XP_006713929.1:p.Trp430Ter
XM_011513419.1:c.1290_1291delinsAA (EVC) XP_011511721.1:p.Trp430Ter
XR_427473.2:n.1480_1481delinsAA (EVC)
XR_427475.2:n.1480_1481delinsAA (EVC)
XR_427476.2:n.1480_1481delinsAA (EVC)
XR_924920.1:n.1480_1481delinsAA (EVC)
XR_924921.1:n.1480_1481delinsAA (EVC)
XR_924922.1:n.1480_1481delinsAA (EVC)
XR_924923.1:n.1480_1481delinsAA (EVC)
XR_924924.1:n.1480_1481delinsAA (EVC)
XR_924925.1:n.1480_1481delinsAA (EVC)
XR_924926.1:n.1480_1481delinsAA (EVC)
XR_924927.1:n.1480_1481delinsAA (EVC)
XR_924928.1:n.1482_1483delinsAA (EVC)
XM_006713865.3:c.1290_1291delinsAA (EVC) XP_006713928.1:p.Trp430Ter
XM_006713866.3:c.1290_1291delinsAA (EVC) XP_006713929.1:p.Trp430Ter
XM_011513419.2:c.1290_1291delinsAA (EVC) XP_011511721.1:p.Trp430Ter
XM_017007883.2:c.1290_1291delinsAA (EVC) XP_016863372.1:p.Trp430Ter
XR_001741164.1:n.1470_1471delinsAA (EVC)
XR_001741165.1:n.1470_1471delinsAA (EVC)
XR_001741166.1:n.1470_1471delinsAA (EVC)
XR_001741167.1:n.1470_1471delinsAA (EVC)
XR_001741168.1:n.1470_1471delinsAA (EVC)
XR_001741169.2:n.1334_1335delinsAA (EVC)
XR_001741170.1:n.1472_1473delinsAA (EVC)
XR_001741171.1:n.775_776delinsAA (EVC)
XR_427473.3:n.1470_1471delinsAA (EVC)
XR_427475.3:n.1470_1471delinsAA (EVC)
XR_427476.3:n.1470_1471delinsAA (EVC)
XR_924920.2:n.1470_1471delinsAA (EVC)
XR_924921.2:n.1470_1471delinsAA (EVC)
XR_924922.2:n.1470_1471delinsAA (EVC)
XR_924924.2:n.1470_1471delinsAA (EVC)
XR_924925.2:n.1470_1471delinsAA (EVC)
XR_924926.2:n.1470_1471delinsAA (EVC)
NM_153717.3:c.1290_1291delinsAA (EVC) MANE Select NP_714928.1:p.Trp430Ter
NM_001306090.2:c.1290_1291delinsAA (EVC) NP_001293019.1:p.Trp430Ter
NM_001306092.2:c.1290_1291delinsAA (EVC) NP_001293021.1:p.Trp430Ter