Canonical Allele Identifier: CA2740091154
Gene: EVC HGNC NCBI

Linked Data

ClinVar Variation Id: 2936900
ClinVar RCV Id: RCV003799138

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5711380_5711381delinsTT , CM000666.2:g.5711380_5711381delinsTT GRCh38
NC_000004.11:g.5713107_5713108delinsTT , CM000666.1:g.5713107_5713108delinsTT GRCh37
NC_000004.10:g.5764008_5764009delinsTT NCBI36
NG_008843.1:g.5184_5185delinsTT
NG_015821.1:g.3168_3169delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.-1_1delinsTT
ENST00000264956.10:c.-1_1delinsTT
ENST00000509451.1:c.-1_1delinsTT
NM_001306090.1:c.-1_1delinsTT
NM_001306092.1:c.-1_1delinsTT
NM_153717.2:c.-1_1delinsTT
XM_006713865.2:c.-1_1delinsTT
XM_006713866.2:c.-1_1delinsTT
XM_011513419.1:c.-1_1delinsTT
XR_427473.2:n.190_191delinsTT
XR_427475.2:n.190_191delinsTT
XR_427476.2:n.190_191delinsTT
XR_924920.1:n.190_191delinsTT
XR_924921.1:n.190_191delinsTT
XR_924922.1:n.190_191delinsTT
XR_924923.1:n.190_191delinsTT
XR_924924.1:n.190_191delinsTT
XR_924925.1:n.190_191delinsTT
XR_924926.1:n.190_191delinsTT
XR_924927.1:n.190_191delinsTT
XR_924928.1:n.192_193delinsTT
XM_006713865.3:c.-1_1delinsTT
XM_006713866.3:c.-1_1delinsTT
XM_011513419.2:c.-1_1delinsTT
XM_017007883.2:c.-1_1delinsTT
XR_001741164.1:n.180_181delinsTT
XR_001741165.1:n.180_181delinsTT
XR_001741166.1:n.180_181delinsTT
XR_001741167.1:n.180_181delinsTT
XR_001741168.1:n.180_181delinsTT
XR_001741169.2:n.182_183delinsTT
XR_001741170.1:n.182_183delinsTT
XR_427473.3:n.180_181delinsTT
XR_427475.3:n.180_181delinsTT
XR_427476.3:n.180_181delinsTT
XR_924920.2:n.180_181delinsTT
XR_924921.2:n.180_181delinsTT
XR_924922.2:n.180_181delinsTT
XR_924924.2:n.180_181delinsTT
XR_924925.2:n.180_181delinsTT
XR_924926.2:n.180_181delinsTT
NM_153717.3:c.-1_1delinsTT
NM_001306090.2:c.-1_1delinsTT
NM_001306092.2:c.-1_1delinsTT