Canonical Allele Identifier: CA1139658416

Linked Data

ClinVar Variation Id: 962078
ClinVar RCV Id: RCV001235873

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5752873_5756877del , CM000666.2:g.5752873_5756877del GRCh38
NC_000004.11:g.5754600_5758604del , CM000666.1:g.5754600_5758604del GRCh37
NC_000004.10:g.5805501_5809505del NCBI36
NG_008843.1:g.46677_50681del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.1136_1563+515del (EVC)
ENST00000264956.10:c.1136_1563+515del (EVC)
ENST00000506216.5:n.1648-8563_1648-4559del (CRMP1)
ENST00000509451.1:c.1136_1563+515del (EVC)
NM_001306090.1:c.1136_1563+515del (EVC)
NM_001306092.1:c.1136_1563+515del (EVC)
NM_153717.2:c.1136_1563+515del (EVC)
XM_006713865.2:c.1136_1563+515del (EVC)
XM_006713866.2:c.1136_1563+515del (EVC)
XM_011513419.1:c.1136_1563+515del (EVC)
XR_427473.2:n.1326_1753+515del (EVC)
XR_427475.2:n.1326_1753+515del (EVC)
XR_427476.2:n.1326_1753+515del (EVC)
XR_924920.1:n.1326_1753+515del (EVC)
XR_924921.1:n.1326_1753+515del (EVC)
XR_924922.1:n.1326_1753+515del (EVC)
XR_924923.1:n.1326_1753+515del (EVC)
XR_924924.1:n.1326_1753+515del (EVC)
XR_924925.1:n.1326_1753+515del (EVC)
XR_924926.1:n.1326_1753+515del (EVC)
XR_924927.1:n.1326_1753+515del (EVC)
XR_924928.1:n.1328_1755+515del (EVC)
XM_006713865.3:c.1136_1563+515del (EVC)
XM_006713866.3:c.1136_1563+515del (EVC)
XM_011513419.2:c.1136_1563+515del (EVC)
XM_017007883.2:c.1136_1563+515del (EVC)
XR_001741164.1:n.1316_1743+515del (EVC)
XR_001741165.1:n.1316_1743+515del (EVC)
XR_001741166.1:n.1316_1743+515del (EVC)
XR_001741167.1:n.1316_1743+515del (EVC)
XR_001741168.1:n.1316_1743+515del (EVC)
XR_001741169.2:n.1180_1607+515del (EVC)
XR_001741170.1:n.1318_1745+515del (EVC)
XR_001741171.1:n.621_1048+515del (EVC)
XR_427473.3:n.1316_1743+515del (EVC)
XR_427475.3:n.1316_1743+515del (EVC)
XR_427476.3:n.1316_1743+515del (EVC)
XR_924920.2:n.1316_1743+515del (EVC)
XR_924921.2:n.1316_1743+515del (EVC)
XR_924922.2:n.1316_1743+515del (EVC)
XR_924924.2:n.1316_1743+515del (EVC)
XR_924925.2:n.1316_1743+515del (EVC)
XR_924926.2:n.1316_1743+515del (EVC)
NM_153717.3:c.1136_1563+515del (EVC)
NM_001306090.2:c.1136_1563+515del (EVC)
NM_001306092.2:c.1136_1563+515del (EVC)