Canonical Allele Identifier: CA2580070799

Gene: EVC

Linked Data

• ClinVar Variation Id: 1724291
• ClinVar RCV Id: RCV002309559

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711420_5711421insACTGTCTCTTA , CM000666.2:g.5711420_5711421insACTGTCTCTTA	GRCh38
NC_000004.11:g.5713147_5713148insACTGTCTCTTA , CM000666.1:g.5713147_5713148insACTGTCTCTTA	GRCh37
NC_000004.10:g.5764048_5764049insACTGTCTCTTA	NCBI36
NG_008843.1:g.5224_5225insACTGTCTCTTA
NG_015821.1:g.3128_3129insTAAGAGACAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.40_41insACTGTCTCTTA MANE Select	ENSP00000264956.6:p.Leu14HisfsTer?
ENST00000264956.10:c.40_41insACTGTCTCTTA	ENSP00000264956.6:p.Leu14HisfsTer?
ENST00000509451.1:c.40_41insACTGTCTCTTA	ENSP00000426774.1:p.Leu14HisfsTer?
NM_001306090.1:c.40_41insACTGTCTCTTA	NP_001293019.1:p.Leu14HisfsTer?
NM_001306092.1:c.40_41insACTGTCTCTTA	NP_001293021.1:p.Leu14HisfsTer?
NM_153717.2:c.40_41insACTGTCTCTTA	NP_714928.1:p.Leu14HisfsTer?
XM_006713865.2:c.40_41insACTGTCTCTTA	XP_006713928.1:p.Leu14HisfsTer?
XM_006713866.2:c.40_41insACTGTCTCTTA	XP_006713929.1:p.Leu14HisfsTer?
XM_011513419.1:c.40_41insACTGTCTCTTA	XP_011511721.1:p.Leu14HisfsTer?
XR_427473.2:n.230_231insACTGTCTCTTA
XR_427475.2:n.230_231insACTGTCTCTTA
XR_427476.2:n.230_231insACTGTCTCTTA
XR_924920.1:n.230_231insACTGTCTCTTA
XR_924921.1:n.230_231insACTGTCTCTTA
XR_924922.1:n.230_231insACTGTCTCTTA
XR_924923.1:n.230_231insACTGTCTCTTA
XR_924924.1:n.230_231insACTGTCTCTTA
XR_924925.1:n.230_231insACTGTCTCTTA
XR_924926.1:n.230_231insACTGTCTCTTA
XR_924927.1:n.230_231insACTGTCTCTTA
XR_924928.1:n.232_233insACTGTCTCTTA
XM_006713865.3:c.40_41insACTGTCTCTTA	XP_006713928.1:p.Leu14HisfsTer?
XM_006713866.3:c.40_41insACTGTCTCTTA	XP_006713929.1:p.Leu14HisfsTer?
XM_011513419.2:c.40_41insACTGTCTCTTA	XP_011511721.1:p.Leu14HisfsTer?
XM_017007883.2:c.40_41insACTGTCTCTTA	XP_016863372.1:p.Leu14HisfsTer?
XR_001741164.1:n.220_221insACTGTCTCTTA
XR_001741165.1:n.220_221insACTGTCTCTTA
XR_001741166.1:n.220_221insACTGTCTCTTA
XR_001741167.1:n.220_221insACTGTCTCTTA
XR_001741168.1:n.220_221insACTGTCTCTTA
XR_001741169.2:n.222_223insACTGTCTCTTA
XR_001741170.1:n.222_223insACTGTCTCTTA
XR_427473.3:n.220_221insACTGTCTCTTA
XR_427475.3:n.220_221insACTGTCTCTTA
XR_427476.3:n.220_221insACTGTCTCTTA
XR_924920.2:n.220_221insACTGTCTCTTA
XR_924921.2:n.220_221insACTGTCTCTTA
XR_924922.2:n.220_221insACTGTCTCTTA
XR_924924.2:n.220_221insACTGTCTCTTA
XR_924925.2:n.220_221insACTGTCTCTTA
XR_924926.2:n.220_221insACTGTCTCTTA
NM_153717.3:c.40_41insACTGTCTCTTA MANE Select	NP_714928.1:p.Leu14HisfsTer?
NM_001306090.2:c.40_41insACTGTCTCTTA	NP_001293019.1:p.Leu14HisfsTer?
NM_001306092.2:c.40_41insACTGTCTCTTA	NP_001293021.1:p.Leu14HisfsTer?