Canonical Allele Identifier: CA2818402554

Gene: ARVCF

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972946_19972949del , CM000684.2:g.19972946_19972949del	GRCh38
NC_000022.10:g.19960469_19960472del , CM000684.1:g.19960469_19960472del	GRCh37
NC_000022.9:g.18340469_18340472del	NCBI36
NG_023326.1:g.48841_48844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2529_2532del MANE Select	ENSP00000263207.3:p.Trp844ProfsTer19
ENST00000263207.7:c.2529_2532del	ENSP00000263207.3:p.Trp844ProfsTer19
ENST00000401994.5:c.2340_2343del	ENSP00000384341.1:p.Trp781ProfsTer19
ENST00000406259.1:c.2511_2514del	ENSP00000385444.1:p.Trp838ProfsTer19
ENST00000406522.5:c.2322_2325del	ENSP00000384732.1:p.Trp775ProfsTer19
ENST00000495096.5:n.1451_1454del
NM_001670.2:c.2529_2532del	NP_001661.1:p.Trp844ProfsTer19
XM_005261242.1:c.2511_2514del	XP_005261299.1:p.Trp838ProfsTer19
XM_005261243.3:c.2511_2514del	XP_005261300.1:p.Trp838ProfsTer19
XM_005261244.3:c.2511_2514del	XP_005261301.1:p.Trp838ProfsTer19
XM_006724243.1:c.2529_2532del	XP_006724306.1:p.Trp844ProfsTer19
XM_006724245.2:c.2529_2532del	XP_006724308.1:p.Trp844ProfsTer19
XM_006724246.2:c.2283_2286del	XP_006724309.1:p.Trp762ProfsTer19
XM_006724247.2:c.2340_2343del	XP_006724310.1:p.Trp781ProfsTer19
XM_006724248.2:c.2322_2325del	XP_006724311.1:p.Trp775ProfsTer19
XM_011530179.1:c.2496_2499del	XP_011528481.1:p.Trp833ProfsTer19
XM_011530180.1:c.2529_2532del	XP_011528482.1:p.Trp844ProfsTer19
XM_011530182.1:c.1095_1098del	XP_011528484.1:p.Trp366ProfsTer19
XM_011530183.1:c.1077_1080del	XP_011528485.1:p.Trp360ProfsTer19
XR_937863.1:n.2616_2619del
XR_937864.1:n.2616_2619del
XM_005261242.3:c.2511_2514del	XP_005261299.1:p.Trp838ProfsTer19
XM_005261243.4:c.2511_2514del	XP_005261300.1:p.Trp838ProfsTer19
XM_005261244.4:c.2511_2514del	XP_005261301.1:p.Trp838ProfsTer19
XM_006724243.3:c.2529_2532del	XP_006724306.1:p.Trp844ProfsTer19
XM_006724245.3:c.2529_2532del	XP_006724308.1:p.Trp844ProfsTer19
XM_006724246.4:c.2283_2286del	XP_006724309.1:p.Trp762ProfsTer19
XM_006724247.4:c.2340_2343del	XP_006724310.1:p.Trp781ProfsTer19
XM_006724248.4:c.2322_2325del	XP_006724311.1:p.Trp775ProfsTer19
XM_011530179.3:c.2496_2499del	XP_011528481.1:p.Trp833ProfsTer19
XM_011530182.3:c.1095_1098del	XP_011528484.1:p.Trp366ProfsTer19
XM_011530183.3:c.1077_1080del	XP_011528485.1:p.Trp360ProfsTer19
XM_024452249.1:c.2283_2286del	XP_024308017.1:p.Trp762ProfsTer19
XR_937863.2:n.2616_2619del
NM_001670.3:c.2529_2532del MANE Select	NP_001661.1:p.Trp844ProfsTer19