Canonical Allele Identifier: CA917119676
Gene: EVC HGNC NCBI

Linked Data

dbSNP Id: rs1553858217

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5711826del , CM000666.2:g.5711826del GRCh38
NC_000004.11:g.5713553del , CM000666.1:g.5713553del GRCh37
NC_000004.10:g.5764454del NCBI36
NG_008843.1:g.5630del
NG_015821.1:g.2724del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.174+272del MANE Select ENSP00000264956.6:n.174+272del
ENST00000264956.10:c.174+272del ENSP00000264956.6:n.174+272del
ENST00000509451.1:c.174+272del ENSP00000426774.1:n.174+272del
NM_001306090.1:c.174+272del NP_001293019.1:n.174+272del
NM_001306092.1:c.174+272del NP_001293021.1:n.174+272del
NM_153717.2:c.174+272del NP_714928.1:n.174+272del
XM_006713865.2:c.174+272del XP_006713928.1:n.174+272del
XM_006713866.2:c.174+272del XP_006713929.1:n.174+272del
XM_011513419.1:c.174+272del XP_011511721.1:n.174+272del
XR_427473.2:n.364+272del
XR_427475.2:n.364+272del
XR_427476.2:n.364+272del
XR_924920.1:n.364+272del
XR_924921.1:n.364+272del
XR_924922.1:n.364+272del
XR_924923.1:n.364+272del
XR_924924.1:n.364+272del
XR_924925.1:n.364+272del
XR_924926.1:n.364+272del
XR_924927.1:n.364+272del
XR_924928.1:n.366+272del
XM_006713865.3:c.174+272del XP_006713928.1:n.174+272del
XM_006713866.3:c.174+272del XP_006713929.1:n.174+272del
XM_011513419.2:c.174+272del XP_011511721.1:n.174+272del
XM_017007883.2:c.174+272del XP_016863372.1:n.174+272del
XR_001741164.1:n.354+272del
XR_001741165.1:n.354+272del
XR_001741166.1:n.354+272del
XR_001741167.1:n.354+272del
XR_001741168.1:n.354+272del
XR_001741169.2:n.356+272del
XR_001741170.1:n.356+272del
XR_427473.3:n.354+272del
XR_427475.3:n.354+272del
XR_427476.3:n.354+272del
XR_924920.2:n.354+272del
XR_924921.2:n.354+272del
XR_924922.2:n.354+272del
XR_924924.2:n.354+272del
XR_924925.2:n.354+272del
XR_924926.2:n.354+272del
NM_153717.3:c.174+272del MANE Select NP_714928.1:n.174+272del
NM_001306090.2:c.174+272del NP_001293019.1:n.174+272del
NM_001306092.2:c.174+272del NP_001293021.1:n.174+272del