Canonical Allele Identifier: CA1435425011

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628651_5628657delinsCAGATAT , CM000666.2:g.5628651_5628657delinsCAGATAT	GRCh38
NC_000004.11:g.5630378_5630384delinsCAGATAT , CM000666.1:g.5630378_5630384delinsCAGATAT	GRCh37
NC_000004.10:g.5681279_5681285delinsCAGATAT	NCBI36
NG_015821.1:g.85892_85898delinsATATCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1788_1794delinsATATCTG MANE Select	ENSP00000342144.5:p.Glu596=
ENST00000310917.6:c.1548_1554delinsATATCTG	ENSP00000311683.2:p.Glu516=
ENST00000344408.9:c.1788_1794delinsATATCTG	ENSP00000342144.5:p.Glu596=
ENST00000475313.5:c.1548_1554delinsATATCTG	ENSP00000431981.1:p.Glu516=
ENST00000509670.1:c.*181_*187delinsATATCTG	ENSP00000423876.1:n.*181_*187delinsATATCTG
NM_001166136.1:c.1548_1554delinsATATCTG	NP_001159608.1:p.Glu516=
NM_147127.4:c.1788_1794delinsATATCTG	NP_667338.3:p.Glu596=
XM_011513392.1:c.1797_1803delinsATATCTG	XP_011511694.1:p.Glu599=
XM_011513393.1:c.1797_1803delinsATATCTG	XP_011511695.1:p.Glu599=
XM_011513394.1:c.1557_1563delinsATATCTG	XP_011511696.1:p.Glu519=
XM_017007736.1:c.1548_1554delinsATATCTG	XP_016863225.1:p.Glu516=
XM_017007737.1:c.1548_1554delinsATATCTG	XP_016863226.1:p.Glu516=
XM_017007738.1:c.1788_1794delinsATATCTG	XP_016863227.1:p.Glu596=
XM_017007739.1:c.108_114delinsATATCTG	XP_016863228.1:p.Glu36=
XM_024453893.1:c.108_114delinsATATCTG	XP_024309661.1:p.Glu36=
XR_001741141.1:n.1853_1859delinsATATCTG
NM_147127.5:c.1788_1794delinsATATCTG MANE Select	NP_667338.3:p.Glu596=
NM_001166136.2:c.1548_1554delinsATATCTG	NP_001159608.1:p.Glu516=