Canonical Allele Identifier: CA549403294

Gene: EVC

Linked Data

• dbSNP Id: rs1164121689
• gnomAD v2: 4-5713218-GCTCGGC-G
• gnomAD v4: 4-5711491-GCTCGGC-G
• MyVariant Identifiers: chr4:g.5713219_5713224del (hg19) ; chr4:g.5711492_5711497del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5711506_5711511del , CM000666.2:g.5711506_5711511del	GRCh38
NC_000004.11:g.5713233_5713238del , CM000666.1:g.5713233_5713238del	GRCh37
NC_000004.10:g.5764134_5764139del	NCBI36
NG_008843.1:g.5310_5315del
NG_015821.1:g.3052_3057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264956.11:c.126_131del MANE Select	ENSP00000264956.6:p.Gly43_Leu44del
ENST00000264956.10:c.126_131del	ENSP00000264956.6:p.Gly43_Leu44del
ENST00000509451.1:c.126_131del	ENSP00000426774.1:p.Gly43_Leu44del
NM_001306090.1:c.126_131del	NP_001293019.1:p.Gly43_Leu44del
NM_001306092.1:c.126_131del	NP_001293021.1:p.Gly43_Leu44del
NM_153717.2:c.126_131del	NP_714928.1:p.Gly43_Leu44del
XM_006713865.2:c.126_131del	XP_006713928.1:p.Gly43_Leu44del
XM_006713866.2:c.126_131del	XP_006713929.1:p.Gly43_Leu44del
XM_011513419.1:c.126_131del	XP_011511721.1:p.Gly43_Leu44del
XR_427473.2:n.316_321del
XR_427475.2:n.316_321del
XR_427476.2:n.316_321del
XR_924920.1:n.316_321del
XR_924921.1:n.316_321del
XR_924922.1:n.316_321del
XR_924923.1:n.316_321del
XR_924924.1:n.316_321del
XR_924925.1:n.316_321del
XR_924926.1:n.316_321del
XR_924927.1:n.316_321del
XR_924928.1:n.318_323del
XM_006713865.3:c.126_131del	XP_006713928.1:p.Gly43_Leu44del
XM_006713866.3:c.126_131del	XP_006713929.1:p.Gly43_Leu44del
XM_011513419.2:c.126_131del	XP_011511721.1:p.Gly43_Leu44del
XM_017007883.2:c.126_131del	XP_016863372.1:p.Gly43_Leu44del
XR_001741164.1:n.306_311del
XR_001741165.1:n.306_311del
XR_001741166.1:n.306_311del
XR_001741167.1:n.306_311del
XR_001741168.1:n.306_311del
XR_001741169.2:n.308_313del
XR_001741170.1:n.308_313del
XR_427473.3:n.306_311del
XR_427475.3:n.306_311del
XR_427476.3:n.306_311del
XR_924920.2:n.306_311del
XR_924921.2:n.306_311del
XR_924922.2:n.306_311del
XR_924924.2:n.306_311del
XR_924925.2:n.306_311del
XR_924926.2:n.306_311del
NM_153717.3:c.126_131del MANE Select	NP_714928.1:p.Gly43_Leu44del
NM_001306090.2:c.126_131del	NP_001293019.1:p.Gly43_Leu44del
NM_001306092.2:c.126_131del	NP_001293021.1:p.Gly43_Leu44del