Canonical Allele Identifier: CA2835872
Gene: EVC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5745199_5745201del , CM000666.2:g.5745199_5745201del GRCh38
NC_000004.11:g.5746926_5746928del , CM000666.1:g.5746926_5746928del GRCh37
NC_000004.10:g.5797827_5797829del NCBI36
NG_008843.1:g.39003_39005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.802-5_802-3del MANE Select ENSP00000264956.6:n.802-5_802-3del
ENST00000264956.10:c.802-5_802-3del ENSP00000264956.6:n.802-5_802-3del
ENST00000509451.1:c.802-5_802-3del ENSP00000426774.1:n.802-5_802-3del
NM_001306090.1:c.802-5_802-3del NP_001293019.1:n.802-5_802-3del
NM_001306092.1:c.802-5_802-3del NP_001293021.1:n.802-5_802-3del
NM_153717.2:c.802-5_802-3del NP_714928.1:n.802-5_802-3del
XM_006713865.2:c.802-5_802-3del XP_006713928.1:n.802-5_802-3del
XM_006713866.2:c.802-5_802-3del XP_006713929.1:n.802-5_802-3del
XM_011513419.1:c.802-5_802-3del XP_011511721.1:n.802-5_802-3del
XR_427473.2:n.992-5_992-3del
XR_427475.2:n.992-5_992-3del
XR_427476.2:n.992-5_992-3del
XR_924920.1:n.992-5_992-3del
XR_924921.1:n.992-5_992-3del
XR_924922.1:n.992-5_992-3del
XR_924923.1:n.992-5_992-3del
XR_924924.1:n.992-5_992-3del
XR_924925.1:n.992-5_992-3del
XR_924926.1:n.992-5_992-3del
XR_924927.1:n.992-5_992-3del
XR_924928.1:n.994-5_994-3del
XM_006713865.3:c.802-5_802-3del XP_006713928.1:n.802-5_802-3del
XM_006713866.3:c.802-5_802-3del XP_006713929.1:n.802-5_802-3del
XM_011513419.2:c.802-5_802-3del XP_011511721.1:n.802-5_802-3del
XM_017007883.2:c.802-5_802-3del XP_016863372.1:n.802-5_802-3del
XR_001741164.1:n.982-5_982-3del
XR_001741165.1:n.982-5_982-3del
XR_001741166.1:n.982-5_982-3del
XR_001741167.1:n.982-5_982-3del
XR_001741168.1:n.982-5_982-3del
XR_001741169.2:n.984-2949_984-2947del
XR_001741170.1:n.984-5_984-3del
XR_001741171.1:n.287-5_287-3del
XR_427473.3:n.982-5_982-3del
XR_427475.3:n.982-5_982-3del
XR_427476.3:n.982-5_982-3del
XR_924920.2:n.982-5_982-3del
XR_924921.2:n.982-5_982-3del
XR_924922.2:n.982-5_982-3del
XR_924924.2:n.982-5_982-3del
XR_924925.2:n.982-5_982-3del
XR_924926.2:n.982-5_982-3del
NM_153717.3:c.802-5_802-3del MANE Select NP_714928.1:n.802-5_802-3del
NM_001306090.2:c.802-5_802-3del NP_001293019.1:n.802-5_802-3del
NM_001306092.2:c.802-5_802-3del NP_001293021.1:n.802-5_802-3del