Canonical Allele Identifier: CA2577648622

Gene: ARVCF

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972960del , CM000684.2:g.19972960del	GRCh38
NC_000022.10:g.19960483del , CM000684.1:g.19960483del	GRCh37
NC_000022.9:g.18340483del	NCBI36
NG_023326.1:g.48828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2516del MANE Select	ENSP00000263207.3:p.Leu839CysfsTer25
ENST00000263207.7:c.2516del	ENSP00000263207.3:p.Leu839CysfsTer25
ENST00000401994.5:c.2327del	ENSP00000384341.1:p.Leu776CysfsTer25
ENST00000406259.1:c.2498del	ENSP00000385444.1:p.Leu833CysfsTer25
ENST00000406522.5:c.2309del	ENSP00000384732.1:p.Leu770CysfsTer25
ENST00000495096.5:n.1438del
NM_001670.2:c.2516del	NP_001661.1:p.Leu839CysfsTer25
XM_005261242.1:c.2498del	XP_005261299.1:p.Leu833CysfsTer25
XM_005261243.3:c.2498del	XP_005261300.1:p.Leu833CysfsTer25
XM_005261244.3:c.2498del	XP_005261301.1:p.Leu833CysfsTer25
XM_006724243.1:c.2516del	XP_006724306.1:p.Leu839CysfsTer25
XM_006724245.2:c.2516del	XP_006724308.1:p.Leu839CysfsTer25
XM_006724246.2:c.2270del	XP_006724309.1:p.Leu757CysfsTer25
XM_006724247.2:c.2327del	XP_006724310.1:p.Leu776CysfsTer25
XM_006724248.2:c.2309del	XP_006724311.1:p.Leu770CysfsTer25
XM_011530179.1:c.2483del	XP_011528481.1:p.Leu828CysfsTer25
XM_011530180.1:c.2516del	XP_011528482.1:p.Leu839CysfsTer25
XM_011530182.1:c.1082del	XP_011528484.1:p.Leu361CysfsTer25
XM_011530183.1:c.1064del	XP_011528485.1:p.Leu355CysfsTer25
XR_937863.1:n.2603del
XR_937864.1:n.2603del
XM_005261242.3:c.2498del	XP_005261299.1:p.Leu833CysfsTer25
XM_005261243.4:c.2498del	XP_005261300.1:p.Leu833CysfsTer25
XM_005261244.4:c.2498del	XP_005261301.1:p.Leu833CysfsTer25
XM_006724243.3:c.2516del	XP_006724306.1:p.Leu839CysfsTer25
XM_006724245.3:c.2516del	XP_006724308.1:p.Leu839CysfsTer25
XM_006724246.4:c.2270del	XP_006724309.1:p.Leu757CysfsTer25
XM_006724247.4:c.2327del	XP_006724310.1:p.Leu776CysfsTer25
XM_006724248.4:c.2309del	XP_006724311.1:p.Leu770CysfsTer25
XM_011530179.3:c.2483del	XP_011528481.1:p.Leu828CysfsTer25
XM_011530182.3:c.1082del	XP_011528484.1:p.Leu361CysfsTer25
XM_011530183.3:c.1064del	XP_011528485.1:p.Leu355CysfsTer25
XM_024452249.1:c.2270del	XP_024308017.1:p.Leu757CysfsTer25
XR_937863.2:n.2603del
NM_001670.3:c.2516del MANE Select	NP_001661.1:p.Leu839CysfsTer25