Canonical Allele Identifier: CA2521826880
Gene: EVC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5711923_5711938dup , CM000666.2:g.5711923_5711938dup GRCh38
NC_000004.11:g.5713650_5713665dup , CM000666.1:g.5713650_5713665dup GRCh37
NC_000004.10:g.5764551_5764566dup NCBI36
NG_008843.1:g.5727_5742dup
NG_015821.1:g.2615_2630dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.174+369_174+384dup MANE Select ENSP00000264956.6:n.174+369_174+384dup
ENST00000264956.10:c.174+369_174+384dup ENSP00000264956.6:n.174+369_174+384dup
ENST00000509451.1:c.174+369_174+384dup ENSP00000426774.1:n.174+369_174+384dup
NM_001306090.1:c.174+369_174+384dup NP_001293019.1:n.174+369_174+384dup
NM_001306092.1:c.174+369_174+384dup NP_001293021.1:n.174+369_174+384dup
NM_153717.2:c.174+369_174+384dup NP_714928.1:n.174+369_174+384dup
XM_006713865.2:c.174+369_174+384dup XP_006713928.1:n.174+369_174+384dup
XM_006713866.2:c.174+369_174+384dup XP_006713929.1:n.174+369_174+384dup
XM_011513419.1:c.174+369_174+384dup XP_011511721.1:n.174+369_174+384dup
XR_427473.2:n.364+369_364+384dup
XR_427475.2:n.364+369_364+384dup
XR_427476.2:n.364+369_364+384dup
XR_924920.1:n.364+369_364+384dup
XR_924921.1:n.364+369_364+384dup
XR_924922.1:n.364+369_364+384dup
XR_924923.1:n.364+369_364+384dup
XR_924924.1:n.364+369_364+384dup
XR_924925.1:n.364+369_364+384dup
XR_924926.1:n.364+369_364+384dup
XR_924927.1:n.364+369_364+384dup
XR_924928.1:n.366+369_366+384dup
XM_006713865.3:c.174+369_174+384dup XP_006713928.1:n.174+369_174+384dup
XM_006713866.3:c.174+369_174+384dup XP_006713929.1:n.174+369_174+384dup
XM_011513419.2:c.174+369_174+384dup XP_011511721.1:n.174+369_174+384dup
XM_017007883.2:c.174+369_174+384dup XP_016863372.1:n.174+369_174+384dup
XR_001741164.1:n.354+369_354+384dup
XR_001741165.1:n.354+369_354+384dup
XR_001741166.1:n.354+369_354+384dup
XR_001741167.1:n.354+369_354+384dup
XR_001741168.1:n.354+369_354+384dup
XR_001741169.2:n.356+369_356+384dup
XR_001741170.1:n.356+369_356+384dup
XR_427473.3:n.354+369_354+384dup
XR_427475.3:n.354+369_354+384dup
XR_427476.3:n.354+369_354+384dup
XR_924920.2:n.354+369_354+384dup
XR_924921.2:n.354+369_354+384dup
XR_924922.2:n.354+369_354+384dup
XR_924924.2:n.354+369_354+384dup
XR_924925.2:n.354+369_354+384dup
XR_924926.2:n.354+369_354+384dup
NM_153717.3:c.174+369_174+384dup MANE Select NP_714928.1:n.174+369_174+384dup
NM_001306090.2:c.174+369_174+384dup NP_001293019.1:n.174+369_174+384dup
NM_001306092.2:c.174+369_174+384dup NP_001293021.1:n.174+369_174+384dup