Canonical Allele Identifier: CA658821187

Gene: EVC

Linked Data

• ClinVar Variation Id: 555913
• ClinVar RCV Id: RCV000671832
• dbSNP Id: rs1553857864
• gnomAD v4: 4-5711418-GGCT-G
• MyVariant Identifiers: chr4:g.5711426_5711428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711426_5711428del , CM000666.2:g.5711426_5711428del	GRCh38
NC_000004.11:g.5713153_5713155del , CM000666.1:g.5713153_5713155del	GRCh37
NC_000004.10:g.5764054_5764056del	NCBI36
NG_008843.1:g.5230_5232del
NG_015821.1:g.3128_3130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.46_48del MANE Select	ENSP00000264956.6:p.Leu16del
ENST00000264956.10:c.46_48del	ENSP00000264956.6:p.Leu16del
ENST00000509451.1:c.46_48del	ENSP00000426774.1:p.Leu16del
NM_001306090.1:c.46_48del	NP_001293019.1:p.Leu16del
NM_001306092.1:c.46_48del	NP_001293021.1:p.Leu16del
NM_153717.2:c.46_48del	NP_714928.1:p.Leu16del
XM_006713865.2:c.46_48del	XP_006713928.1:p.Leu16del
XM_006713866.2:c.46_48del	XP_006713929.1:p.Leu16del
XM_011513419.1:c.46_48del	XP_011511721.1:p.Leu16del
XR_427473.2:n.236_238del
XR_427475.2:n.236_238del
XR_427476.2:n.236_238del
XR_924920.1:n.236_238del
XR_924921.1:n.236_238del
XR_924922.1:n.236_238del
XR_924923.1:n.236_238del
XR_924924.1:n.236_238del
XR_924925.1:n.236_238del
XR_924926.1:n.236_238del
XR_924927.1:n.236_238del
XR_924928.1:n.238_240del
XM_006713865.3:c.46_48del	XP_006713928.1:p.Leu16del
XM_006713866.3:c.46_48del	XP_006713929.1:p.Leu16del
XM_011513419.2:c.46_48del	XP_011511721.1:p.Leu16del
XM_017007883.2:c.46_48del	XP_016863372.1:p.Leu16del
XR_001741164.1:n.226_228del
XR_001741165.1:n.226_228del
XR_001741166.1:n.226_228del
XR_001741167.1:n.226_228del
XR_001741168.1:n.226_228del
XR_001741169.2:n.228_230del
XR_001741170.1:n.228_230del
XR_427473.3:n.226_228del
XR_427475.3:n.226_228del
XR_427476.3:n.226_228del
XR_924920.2:n.226_228del
XR_924921.2:n.226_228del
XR_924922.2:n.226_228del
XR_924924.2:n.226_228del
XR_924925.2:n.226_228del
XR_924926.2:n.226_228del
NM_153717.3:c.46_48del MANE Select	NP_714928.1:p.Leu16del
NM_001306090.2:c.46_48del	NP_001293019.1:p.Leu16del
NM_001306092.2:c.46_48del	NP_001293021.1:p.Leu16del