Canonical Allele Identifier: CA2580070815

Linked Data

ClinVar Variation Id: 1949986
ClinVar RCV Id: RCV002659601

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5752815_5752816delinsGT , CM000666.2:g.5752815_5752816delinsGT GRCh38
NC_000004.11:g.5754542_5754543delinsGT , CM000666.1:g.5754542_5754543delinsGT GRCh37
NC_000004.10:g.5805443_5805444delinsGT NCBI36
NG_008843.1:g.46619_46620delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.1099-21_1099-20delinsGT (EVC) MANE Select ENSP00000264956.6:n.1099-21_1099-20delinsGT
ENST00000264956.10:c.1099-21_1099-20delinsGT (EVC) ENSP00000264956.6:n.1099-21_1099-20delinsGT
ENST00000506216.5:n.1648-4504_1648-4503delinsAC (CRMP1)
ENST00000509451.1:c.1099-21_1099-20delinsGT (EVC) ENSP00000426774.1:n.1099-21_1099-20delinsGT
ENST00000514919.1:n.141_142delinsGT (EVC)
NM_001306090.1:c.1099-21_1099-20delinsGT (EVC) NP_001293019.1:n.1099-21_1099-20delinsGT
NM_001306092.1:c.1099-21_1099-20delinsGT (EVC) NP_001293021.1:n.1099-21_1099-20delinsGT
NM_153717.2:c.1099-21_1099-20delinsGT (EVC) NP_714928.1:n.1099-21_1099-20delinsGT
XM_006713865.2:c.1099-21_1099-20delinsGT (EVC) XP_006713928.1:n.1099-21_1099-20delinsGT
XM_006713866.2:c.1099-21_1099-20delinsGT (EVC) XP_006713929.1:n.1099-21_1099-20delinsGT
XM_011513419.1:c.1099-21_1099-20delinsGT (EVC) XP_011511721.1:n.1099-21_1099-20delinsGT
XR_427473.2:n.1289-21_1289-20delinsGT (EVC)
XR_427475.2:n.1289-21_1289-20delinsGT (EVC)
XR_427476.2:n.1289-21_1289-20delinsGT (EVC)
XR_924920.1:n.1289-21_1289-20delinsGT (EVC)
XR_924921.1:n.1289-21_1289-20delinsGT (EVC)
XR_924922.1:n.1289-21_1289-20delinsGT (EVC)
XR_924923.1:n.1289-21_1289-20delinsGT (EVC)
XR_924924.1:n.1289-21_1289-20delinsGT (EVC)
XR_924925.1:n.1289-21_1289-20delinsGT (EVC)
XR_924926.1:n.1289-21_1289-20delinsGT (EVC)
XR_924927.1:n.1289-21_1289-20delinsGT (EVC)
XR_924928.1:n.1291-21_1291-20delinsGT (EVC)
XM_006713865.3:c.1099-21_1099-20delinsGT (EVC) XP_006713928.1:n.1099-21_1099-20delinsGT
XM_006713866.3:c.1099-21_1099-20delinsGT (EVC) XP_006713929.1:n.1099-21_1099-20delinsGT
XM_011513419.2:c.1099-21_1099-20delinsGT (EVC) XP_011511721.1:n.1099-21_1099-20delinsGT
XM_017007883.2:c.1099-21_1099-20delinsGT (EVC) XP_016863372.1:n.1099-21_1099-20delinsGT
XR_001741164.1:n.1279-21_1279-20delinsGT (EVC)
XR_001741165.1:n.1279-21_1279-20delinsGT (EVC)
XR_001741166.1:n.1279-21_1279-20delinsGT (EVC)
XR_001741167.1:n.1279-21_1279-20delinsGT (EVC)
XR_001741168.1:n.1279-21_1279-20delinsGT (EVC)
XR_001741169.2:n.1143-21_1143-20delinsGT (EVC)
XR_001741170.1:n.1281-21_1281-20delinsGT (EVC)
XR_001741171.1:n.584-21_584-20delinsGT (EVC)
XR_427473.3:n.1279-21_1279-20delinsGT (EVC)
XR_427475.3:n.1279-21_1279-20delinsGT (EVC)
XR_427476.3:n.1279-21_1279-20delinsGT (EVC)
XR_924920.2:n.1279-21_1279-20delinsGT (EVC)
XR_924921.2:n.1279-21_1279-20delinsGT (EVC)
XR_924922.2:n.1279-21_1279-20delinsGT (EVC)
XR_924924.2:n.1279-21_1279-20delinsGT (EVC)
XR_924925.2:n.1279-21_1279-20delinsGT (EVC)
XR_924926.2:n.1279-21_1279-20delinsGT (EVC)
NM_153717.3:c.1099-21_1099-20delinsGT (EVC) MANE Select NP_714928.1:n.1099-21_1099-20delinsGT
NM_001306090.2:c.1099-21_1099-20delinsGT (EVC) NP_001293019.1:n.1099-21_1099-20delinsGT
NM_001306092.2:c.1099-21_1099-20delinsGT (EVC) NP_001293021.1:n.1099-21_1099-20delinsGT