Canonical Allele Identifier: CA2580070786

Gene: EVC

Linked Data

• ClinVar Variation Id: 1725454
• ClinVar RCV Id: RCV002309138

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711388_5711389insTGCTGCTGAGTGT , CM000666.2:g.5711388_5711389insTGCTGCTGAGTGT	GRCh38
NC_000004.11:g.5713115_5713116insTGCTGCTGAGTGT , CM000666.1:g.5713115_5713116insTGCTGCTGAGTGT	GRCh37
NC_000004.10:g.5764016_5764017insTGCTGCTGAGTGT	NCBI36
NG_008843.1:g.5192_5193insTGCTGCTGAGTGT
NG_015821.1:g.3160_3161insACACTCAGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.8_9insTGCTGCTGAGTGT MANE Select	ENSP00000264956.6:p.Gly4AlafsTer?
ENST00000264956.10:c.8_9insTGCTGCTGAGTGT	ENSP00000264956.6:p.Gly4AlafsTer?
ENST00000509451.1:c.8_9insTGCTGCTGAGTGT	ENSP00000426774.1:p.Gly4AlafsTer?
NM_001306090.1:c.8_9insTGCTGCTGAGTGT	NP_001293019.1:p.Gly4AlafsTer?
NM_001306092.1:c.8_9insTGCTGCTGAGTGT	NP_001293021.1:p.Gly4AlafsTer?
NM_153717.2:c.8_9insTGCTGCTGAGTGT	NP_714928.1:p.Gly4AlafsTer?
XM_006713865.2:c.8_9insTGCTGCTGAGTGT	XP_006713928.1:p.Gly4AlafsTer?
XM_006713866.2:c.8_9insTGCTGCTGAGTGT	XP_006713929.1:p.Gly4AlafsTer?
XM_011513419.1:c.8_9insTGCTGCTGAGTGT	XP_011511721.1:p.Gly4AlafsTer?
XR_427473.2:n.198_199insTGCTGCTGAGTGT
XR_427475.2:n.198_199insTGCTGCTGAGTGT
XR_427476.2:n.198_199insTGCTGCTGAGTGT
XR_924920.1:n.198_199insTGCTGCTGAGTGT
XR_924921.1:n.198_199insTGCTGCTGAGTGT
XR_924922.1:n.198_199insTGCTGCTGAGTGT
XR_924923.1:n.198_199insTGCTGCTGAGTGT
XR_924924.1:n.198_199insTGCTGCTGAGTGT
XR_924925.1:n.198_199insTGCTGCTGAGTGT
XR_924926.1:n.198_199insTGCTGCTGAGTGT
XR_924927.1:n.198_199insTGCTGCTGAGTGT
XR_924928.1:n.200_201insTGCTGCTGAGTGT
XM_006713865.3:c.8_9insTGCTGCTGAGTGT	XP_006713928.1:p.Gly4AlafsTer?
XM_006713866.3:c.8_9insTGCTGCTGAGTGT	XP_006713929.1:p.Gly4AlafsTer?
XM_011513419.2:c.8_9insTGCTGCTGAGTGT	XP_011511721.1:p.Gly4AlafsTer?
XM_017007883.2:c.8_9insTGCTGCTGAGTGT	XP_016863372.1:p.Gly4AlafsTer?
XR_001741164.1:n.188_189insTGCTGCTGAGTGT
XR_001741165.1:n.188_189insTGCTGCTGAGTGT
XR_001741166.1:n.188_189insTGCTGCTGAGTGT
XR_001741167.1:n.188_189insTGCTGCTGAGTGT
XR_001741168.1:n.188_189insTGCTGCTGAGTGT
XR_001741169.2:n.190_191insTGCTGCTGAGTGT
XR_001741170.1:n.190_191insTGCTGCTGAGTGT
XR_427473.3:n.188_189insTGCTGCTGAGTGT
XR_427475.3:n.188_189insTGCTGCTGAGTGT
XR_427476.3:n.188_189insTGCTGCTGAGTGT
XR_924920.2:n.188_189insTGCTGCTGAGTGT
XR_924921.2:n.188_189insTGCTGCTGAGTGT
XR_924922.2:n.188_189insTGCTGCTGAGTGT
XR_924924.2:n.188_189insTGCTGCTGAGTGT
XR_924925.2:n.188_189insTGCTGCTGAGTGT
XR_924926.2:n.188_189insTGCTGCTGAGTGT
NM_153717.3:c.8_9insTGCTGCTGAGTGT MANE Select	NP_714928.1:p.Gly4AlafsTer?
NM_001306090.2:c.8_9insTGCTGCTGAGTGT	NP_001293019.1:p.Gly4AlafsTer?
NM_001306092.2:c.8_9insTGCTGCTGAGTGT	NP_001293021.1:p.Gly4AlafsTer?