Canonical Allele Identifier: CA2578033182

Gene: EVC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711511_5711512insCGGCCG , CM000666.2:g.5711511_5711512insCGGCCG	GRCh38
NC_000004.11:g.5713238_5713239insCGGCCG , CM000666.1:g.5713238_5713239insCGGCCG	GRCh37
NC_000004.10:g.5764139_5764140insCGGCCG	NCBI36
NG_008843.1:g.5315_5316insCGGCCG
NG_015821.1:g.3037_3038insCGGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.131_132insCGGCCG MANE Select	ENSP00000264956.6:p.Leu44_Trp45insGlyArg
ENST00000264956.10:c.131_132insCGGCCG	ENSP00000264956.6:p.Leu44_Trp45insGlyArg
ENST00000509451.1:c.131_132insCGGCCG	ENSP00000426774.1:p.Leu44_Trp45insGlyArg
NM_001306090.1:c.131_132insCGGCCG	NP_001293019.1:p.Leu44_Trp45insGlyArg
NM_001306092.1:c.131_132insCGGCCG	NP_001293021.1:p.Leu44_Trp45insGlyArg
NM_153717.2:c.131_132insCGGCCG	NP_714928.1:p.Leu44_Trp45insGlyArg
XM_006713865.2:c.131_132insCGGCCG	XP_006713928.1:p.Leu44_Trp45insGlyArg
XM_006713866.2:c.131_132insCGGCCG	XP_006713929.1:p.Leu44_Trp45insGlyArg
XM_011513419.1:c.131_132insCGGCCG	XP_011511721.1:p.Leu44_Trp45insGlyArg
XR_427473.2:n.321_322insCGGCCG
XR_427475.2:n.321_322insCGGCCG
XR_427476.2:n.321_322insCGGCCG
XR_924920.1:n.321_322insCGGCCG
XR_924921.1:n.321_322insCGGCCG
XR_924922.1:n.321_322insCGGCCG
XR_924923.1:n.321_322insCGGCCG
XR_924924.1:n.321_322insCGGCCG
XR_924925.1:n.321_322insCGGCCG
XR_924926.1:n.321_322insCGGCCG
XR_924927.1:n.321_322insCGGCCG
XR_924928.1:n.323_324insCGGCCG
XM_006713865.3:c.131_132insCGGCCG	XP_006713928.1:p.Leu44_Trp45insGlyArg
XM_006713866.3:c.131_132insCGGCCG	XP_006713929.1:p.Leu44_Trp45insGlyArg
XM_011513419.2:c.131_132insCGGCCG	XP_011511721.1:p.Leu44_Trp45insGlyArg
XM_017007883.2:c.131_132insCGGCCG	XP_016863372.1:p.Leu44_Trp45insGlyArg
XR_001741164.1:n.311_312insCGGCCG
XR_001741165.1:n.311_312insCGGCCG
XR_001741166.1:n.311_312insCGGCCG
XR_001741167.1:n.311_312insCGGCCG
XR_001741168.1:n.311_312insCGGCCG
XR_001741169.2:n.313_314insCGGCCG
XR_001741170.1:n.313_314insCGGCCG
XR_427473.3:n.311_312insCGGCCG
XR_427475.3:n.311_312insCGGCCG
XR_427476.3:n.311_312insCGGCCG
XR_924920.2:n.311_312insCGGCCG
XR_924921.2:n.311_312insCGGCCG
XR_924922.2:n.311_312insCGGCCG
XR_924924.2:n.311_312insCGGCCG
XR_924925.2:n.311_312insCGGCCG
XR_924926.2:n.311_312insCGGCCG
NM_153717.3:c.131_132insCGGCCG MANE Select	NP_714928.1:p.Leu44_Trp45insGlyArg
NM_001306090.2:c.131_132insCGGCCG	NP_001293019.1:p.Leu44_Trp45insGlyArg
NM_001306092.2:c.131_132insCGGCCG	NP_001293021.1:p.Leu44_Trp45insGlyArg