Canonical Allele Identifier: CA16618049

Gene: EVC

Linked Data

• ClinVar Variation Id: 423023
• ClinVar RCV Id: RCV000482198
• dbSNP Id: rs1064796174

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711345_5711346delinsAA , CM000666.2:g.5711345_5711346delinsAA	GRCh38
NC_000004.11:g.5713072_5713073delinsAA , CM000666.1:g.5713072_5713073delinsAA	GRCh37
NC_000004.10:g.5763973_5763974delinsAA	NCBI36
NG_008843.1:g.5149_5150delinsAA
NG_015821.1:g.3203_3204delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.-36_-35delinsAA MANE Select	ENSP00000264956.6:n.-36_-35delinsAA
ENST00000264956.10:c.-36_-35delinsAA	ENSP00000264956.6:n.-36_-35delinsAA
ENST00000509451.1:c.-36_-35delinsAA	ENSP00000426774.1:n.-36_-35delinsAA
NM_001306090.1:c.-36_-35delinsAA	NP_001293019.1:n.-36_-35delinsAA
NM_001306092.1:c.-36_-35delinsAA	NP_001293021.1:n.-36_-35delinsAA
NM_153717.2:c.-36_-35delinsAA	NP_714928.1:n.-36_-35delinsAA
XM_006713865.2:c.-36_-35delinsAA	XP_006713928.1:n.-36_-35delinsAA
XM_006713866.2:c.-36_-35delinsAA	XP_006713929.1:n.-36_-35delinsAA
XM_011513419.1:c.-36_-35delinsAA	XP_011511721.1:n.-36_-35delinsAA
XR_427473.2:n.155_156delinsAA
XR_427475.2:n.155_156delinsAA
XR_427476.2:n.155_156delinsAA
XR_924920.1:n.155_156delinsAA
XR_924921.1:n.155_156delinsAA
XR_924922.1:n.155_156delinsAA
XR_924923.1:n.155_156delinsAA
XR_924924.1:n.155_156delinsAA
XR_924925.1:n.155_156delinsAA
XR_924926.1:n.155_156delinsAA
XR_924927.1:n.155_156delinsAA
XR_924928.1:n.157_158delinsAA
XM_006713865.3:c.-36_-35delinsAA	XP_006713928.1:n.-36_-35delinsAA
XM_006713866.3:c.-36_-35delinsAA	XP_006713929.1:n.-36_-35delinsAA
XM_011513419.2:c.-36_-35delinsAA	XP_011511721.1:n.-36_-35delinsAA
XM_017007883.2:c.-36_-35delinsAA	XP_016863372.1:n.-36_-35delinsAA
XR_001741164.1:n.145_146delinsAA
XR_001741165.1:n.145_146delinsAA
XR_001741166.1:n.145_146delinsAA
XR_001741167.1:n.145_146delinsAA
XR_001741168.1:n.145_146delinsAA
XR_001741169.2:n.147_148delinsAA
XR_001741170.1:n.147_148delinsAA
XR_427473.3:n.145_146delinsAA
XR_427475.3:n.145_146delinsAA
XR_427476.3:n.145_146delinsAA
XR_924920.2:n.145_146delinsAA
XR_924921.2:n.145_146delinsAA
XR_924922.2:n.145_146delinsAA
XR_924924.2:n.145_146delinsAA
XR_924925.2:n.145_146delinsAA
XR_924926.2:n.145_146delinsAA
NM_153717.3:c.-36_-35delinsAA MANE Select	NP_714928.1:n.-36_-35delinsAA
NM_001306090.2:c.-36_-35delinsAA	NP_001293019.1:n.-36_-35delinsAA
NM_001306092.2:c.-36_-35delinsAA	NP_001293021.1:n.-36_-35delinsAA