Canonical Allele Identifier: CA1435469492

Gene: EVC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711403_5711404delinsGC , CM000666.2:g.5711403_5711404delinsGC	GRCh38
NC_000004.11:g.5713130_5713131delinsGC , CM000666.1:g.5713130_5713131delinsGC	GRCh37
NC_000004.10:g.5764031_5764032delinsGC	NCBI36
NG_008843.1:g.5207_5208delinsGC
NG_015821.1:g.3145_3146delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.23_24delinsGC MANE Select	ENSP00000264956.6:p.Cys8=
ENST00000264956.10:c.23_24delinsGC	ENSP00000264956.6:p.Cys8=
ENST00000509451.1:c.23_24delinsGC	ENSP00000426774.1:p.Cys8=
NM_001306090.1:c.23_24delinsGC	NP_001293019.1:p.Cys8=
NM_001306092.1:c.23_24delinsGC	NP_001293021.1:p.Cys8=
NM_153717.2:c.23_24delinsGC	NP_714928.1:p.Cys8=
XM_006713865.2:c.23_24delinsGC	XP_006713928.1:p.Cys8=
XM_006713866.2:c.23_24delinsGC	XP_006713929.1:p.Cys8=
XM_011513419.1:c.23_24delinsGC	XP_011511721.1:p.Cys8=
XR_427473.2:n.213_214delinsGC
XR_427475.2:n.213_214delinsGC
XR_427476.2:n.213_214delinsGC
XR_924920.1:n.213_214delinsGC
XR_924921.1:n.213_214delinsGC
XR_924922.1:n.213_214delinsGC
XR_924923.1:n.213_214delinsGC
XR_924924.1:n.213_214delinsGC
XR_924925.1:n.213_214delinsGC
XR_924926.1:n.213_214delinsGC
XR_924927.1:n.213_214delinsGC
XR_924928.1:n.215_216delinsGC
XM_006713865.3:c.23_24delinsGC	XP_006713928.1:p.Cys8=
XM_006713866.3:c.23_24delinsGC	XP_006713929.1:p.Cys8=
XM_011513419.2:c.23_24delinsGC	XP_011511721.1:p.Cys8=
XM_017007883.2:c.23_24delinsGC	XP_016863372.1:p.Cys8=
XR_001741164.1:n.203_204delinsGC
XR_001741165.1:n.203_204delinsGC
XR_001741166.1:n.203_204delinsGC
XR_001741167.1:n.203_204delinsGC
XR_001741168.1:n.203_204delinsGC
XR_001741169.2:n.205_206delinsGC
XR_001741170.1:n.205_206delinsGC
XR_427473.3:n.203_204delinsGC
XR_427475.3:n.203_204delinsGC
XR_427476.3:n.203_204delinsGC
XR_924920.2:n.203_204delinsGC
XR_924921.2:n.203_204delinsGC
XR_924922.2:n.203_204delinsGC
XR_924924.2:n.203_204delinsGC
XR_924925.2:n.203_204delinsGC
XR_924926.2:n.203_204delinsGC
NM_153717.3:c.23_24delinsGC MANE Select	NP_714928.1:p.Cys8=
NM_001306090.2:c.23_24delinsGC	NP_001293019.1:p.Cys8=
NM_001306092.2:c.23_24delinsGC	NP_001293021.1:p.Cys8=