Canonical Allele Identifier: CA2669805826
Gene: EVC HGNC NCBI

Linked Data

gnomAD v4: 4-5711219-GA-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5711221del , CM000666.2:g.5711221del GRCh38
NC_000004.11:g.5712948del , CM000666.1:g.5712948del GRCh37
NC_000004.10:g.5763849del NCBI36
NG_008843.1:g.5025del
NG_015821.1:g.3329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.-160del MANE Select ENSP00000264956.6:n.-160del
ENST00000264956.10:c.-160del ENSP00000264956.6:n.-160del
ENST00000509451.1:c.-160del ENSP00000426774.1:n.-160del
NM_001306090.1:c.-160del NP_001293019.1:n.-160del
NM_001306092.1:c.-160del NP_001293021.1:n.-160del
NM_153717.2:c.-160del NP_714928.1:n.-160del
XM_006713865.2:c.-160del XP_006713928.1:n.-160del
XM_006713866.2:c.-160del XP_006713929.1:n.-160del
XM_011513419.1:c.-160del XP_011511721.1:n.-160del
XR_427473.2:n.31del
XR_427475.2:n.31del
XR_427476.2:n.31del
XR_924920.1:n.31del
XR_924921.1:n.31del
XR_924922.1:n.31del
XR_924923.1:n.31del
XR_924924.1:n.31del
XR_924925.1:n.31del
XR_924926.1:n.31del
XR_924927.1:n.31del
XR_924928.1:n.33del
XM_006713865.3:c.-160del XP_006713928.1:n.-160del
XM_006713866.3:c.-160del XP_006713929.1:n.-160del
XM_011513419.2:c.-160del XP_011511721.1:n.-160del
XM_017007883.2:c.-160del XP_016863372.1:n.-160del
XR_001741164.1:n.21del
XR_001741165.1:n.21del
XR_001741166.1:n.21del
XR_001741167.1:n.21del
XR_001741168.1:n.21del
XR_001741169.2:n.23del
XR_001741170.1:n.23del
XR_427473.3:n.21del
XR_427475.3:n.21del
XR_427476.3:n.21del
XR_924920.2:n.21del
XR_924921.2:n.21del
XR_924922.2:n.21del
XR_924924.2:n.21del
XR_924925.2:n.21del
XR_924926.2:n.21del
NM_153717.3:c.-160del MANE Select NP_714928.1:n.-160del
NM_001306090.2:c.-160del NP_001293019.1:n.-160del
NM_001306092.2:c.-160del NP_001293021.1:n.-160del