Canonical Allele Identifier: CA2580070794

Gene: EVC

Linked Data

• ClinVar Variation Id: 1724853
• ClinVar RCV Id: RCV002307912

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711409_5711410insA , CM000666.2:g.5711409_5711410insA	GRCh38
NC_000004.11:g.5713136_5713137insA , CM000666.1:g.5713136_5713137insA	GRCh37
NC_000004.10:g.5764037_5764038insA	NCBI36
NG_008843.1:g.5213_5214insA
NG_015821.1:g.3139_3140insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.29_30insA MANE Select	ENSP00000264956.6:p.Ser10ArgfsTer?
ENST00000264956.10:c.29_30insA	ENSP00000264956.6:p.Ser10ArgfsTer?
ENST00000509451.1:c.29_30insA	ENSP00000426774.1:p.Ser10ArgfsTer?
NM_001306090.1:c.29_30insA	NP_001293019.1:p.Ser10ArgfsTer?
NM_001306092.1:c.29_30insA	NP_001293021.1:p.Ser10ArgfsTer?
NM_153717.2:c.29_30insA	NP_714928.1:p.Ser10ArgfsTer?
XM_006713865.2:c.29_30insA	XP_006713928.1:p.Ser10ArgfsTer?
XM_006713866.2:c.29_30insA	XP_006713929.1:p.Ser10ArgfsTer?
XM_011513419.1:c.29_30insA	XP_011511721.1:p.Ser10ArgfsTer?
XR_427473.2:n.219_220insA
XR_427475.2:n.219_220insA
XR_427476.2:n.219_220insA
XR_924920.1:n.219_220insA
XR_924921.1:n.219_220insA
XR_924922.1:n.219_220insA
XR_924923.1:n.219_220insA
XR_924924.1:n.219_220insA
XR_924925.1:n.219_220insA
XR_924926.1:n.219_220insA
XR_924927.1:n.219_220insA
XR_924928.1:n.221_222insA
XM_006713865.3:c.29_30insA	XP_006713928.1:p.Ser10ArgfsTer?
XM_006713866.3:c.29_30insA	XP_006713929.1:p.Ser10ArgfsTer?
XM_011513419.2:c.29_30insA	XP_011511721.1:p.Ser10ArgfsTer?
XM_017007883.2:c.29_30insA	XP_016863372.1:p.Ser10ArgfsTer?
XR_001741164.1:n.209_210insA
XR_001741165.1:n.209_210insA
XR_001741166.1:n.209_210insA
XR_001741167.1:n.209_210insA
XR_001741168.1:n.209_210insA
XR_001741169.2:n.211_212insA
XR_001741170.1:n.211_212insA
XR_427473.3:n.209_210insA
XR_427475.3:n.209_210insA
XR_427476.3:n.209_210insA
XR_924920.2:n.209_210insA
XR_924921.2:n.209_210insA
XR_924922.2:n.209_210insA
XR_924924.2:n.209_210insA
XR_924925.2:n.209_210insA
XR_924926.2:n.209_210insA
NM_153717.3:c.29_30insA MANE Select	NP_714928.1:p.Ser10ArgfsTer?
NM_001306090.2:c.29_30insA	NP_001293019.1:p.Ser10ArgfsTer?
NM_001306092.2:c.29_30insA	NP_001293021.1:p.Ser10ArgfsTer?