Canonical Allele Identifier: CA2396130930

Gene: ARVCF

Linked Data

• dbSNP Id: rs1942913549

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972984_19973000dup , CM000684.2:g.19972984_19973000dup	GRCh38
NC_000022.10:g.19960507_19960523dup , CM000684.1:g.19960507_19960523dup	GRCh37
NC_000022.9:g.18340507_18340523dup	NCBI36
NG_023326.1:g.48790_48806dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2478_2494dup MANE Select	ENSP00000263207.3:p.Tyr832CysfsTer?
ENST00000263207.7:c.2478_2494dup	ENSP00000263207.3:p.Tyr832CysfsTer?
ENST00000401994.5:c.2289_2305dup	ENSP00000384341.1:p.Tyr769CysfsTer?
ENST00000406259.1:c.2460_2476dup	ENSP00000385444.1:p.Tyr826CysfsTer?
ENST00000406522.5:c.2271_2287dup	ENSP00000384732.1:p.Tyr763CysfsTer?
ENST00000495096.5:n.1400_1416dup
NM_001670.2:c.2478_2494dup	NP_001661.1:p.Tyr832CysfsTer?
XM_005261242.1:c.2460_2476dup	XP_005261299.1:p.Tyr826CysfsTer?
XM_005261243.3:c.2460_2476dup	XP_005261300.1:p.Tyr826CysfsTer?
XM_005261244.3:c.2460_2476dup	XP_005261301.1:p.Tyr826CysfsTer?
XM_006724243.1:c.2478_2494dup	XP_006724306.1:p.Tyr832CysfsTer?
XM_006724245.2:c.2478_2494dup	XP_006724308.1:p.Tyr832CysfsTer?
XM_006724246.2:c.2232_2248dup	XP_006724309.1:p.Tyr750CysfsTer?
XM_006724247.2:c.2289_2305dup	XP_006724310.1:p.Tyr769CysfsTer?
XM_006724248.2:c.2271_2287dup	XP_006724311.1:p.Tyr763CysfsTer?
XM_011530179.1:c.2445_2461dup	XP_011528481.1:p.Tyr821CysfsTer?
XM_011530180.1:c.2478_2494dup	XP_011528482.1:p.Tyr832CysfsTer?
XM_011530182.1:c.1044_1060dup	XP_011528484.1:p.Tyr354CysfsTer?
XM_011530183.1:c.1026_1042dup	XP_011528485.1:p.Tyr348CysfsTer?
XR_937863.1:n.2565_2581dup
XR_937864.1:n.2565_2581dup
XM_005261242.3:c.2460_2476dup	XP_005261299.1:p.Tyr826CysfsTer?
XM_005261243.4:c.2460_2476dup	XP_005261300.1:p.Tyr826CysfsTer?
XM_005261244.4:c.2460_2476dup	XP_005261301.1:p.Tyr826CysfsTer?
XM_006724243.3:c.2478_2494dup	XP_006724306.1:p.Tyr832CysfsTer?
XM_006724245.3:c.2478_2494dup	XP_006724308.1:p.Tyr832CysfsTer?
XM_006724246.4:c.2232_2248dup	XP_006724309.1:p.Tyr750CysfsTer?
XM_006724247.4:c.2289_2305dup	XP_006724310.1:p.Tyr769CysfsTer?
XM_006724248.4:c.2271_2287dup	XP_006724311.1:p.Tyr763CysfsTer?
XM_011530179.3:c.2445_2461dup	XP_011528481.1:p.Tyr821CysfsTer?
XM_011530182.3:c.1044_1060dup	XP_011528484.1:p.Tyr354CysfsTer?
XM_011530183.3:c.1026_1042dup	XP_011528485.1:p.Tyr348CysfsTer?
XM_024452249.1:c.2232_2248dup	XP_024308017.1:p.Tyr750CysfsTer?
XR_937863.2:n.2565_2581dup
NM_001670.3:c.2478_2494dup MANE Select	NP_001661.1:p.Tyr832CysfsTer?