Canonical Allele Identifier: CA1435391949

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5565242_5565260delinsAGGTGCCCATCATTACCTC , CM000666.2:g.5565242_5565260delinsAGGTGCCCATCATTACCTC	GRCh38
NC_000004.11:g.5566969_5566987delinsAGGTGCCCATCATTACCTC , CM000666.1:g.5566969_5566987delinsAGGTGCCCATCATTACCTC	GRCh37
NC_000004.10:g.5617870_5617888delinsAGGTGCCCATCATTACCTC	NCBI36
NG_015821.1:g.149289_149307delinsGAGGTAATGATGGGCACCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000344408.10:c.3657_3659+16delinsGAGGTAATGATGGGCACCT
ENST00000310917.6:c.3417_3419+16delinsGAGGTAATGATGGGCACCT
ENST00000344408.9:c.3657_3659+16delinsGAGGTAATGATGGGCACCT
ENST00000475313.5:c.3417_3419+16delinsGAGGTAATGATGGGCACCT
ENST00000509670.1:c.*2050_*2052+16delinsGAGGTAATGATGGGCACCT
NM_001166136.1:c.3417_3419+16delinsGAGGTAATGATGGGCACCT
NM_147127.4:c.3657_3659+16delinsGAGGTAATGATGGGCACCT
XM_011513392.1:c.3666_3668+16delinsGAGGTAATGATGGGCACCT
XM_011513393.1:c.3666_3668+16delinsGAGGTAATGATGGGCACCT
XM_011513394.1:c.3426_3428+16delinsGAGGTAATGATGGGCACCT
XM_017007736.1:c.3417_3419+16delinsGAGGTAATGATGGGCACCT
XM_017007737.1:c.3417_3419+16delinsGAGGTAATGATGGGCACCT
XM_017007739.1:c.1977_1979+16delinsGAGGTAATGATGGGCACCT
XM_024453893.1:c.1977_1979+16delinsGAGGTAATGATGGGCACCT
XR_001741141.1:n.3507_3509+16delinsGAGGTAATGATGGGCACCT
NM_147127.5:c.3657_3659+16delinsGAGGTAATGATGGGCACCT
NM_001166136.2:c.3417_3419+16delinsGAGGTAATGATGGGCACCT