Canonical Allele Identifier: CA10105016

Gene: ARVCF

Linked Data

• dbSNP Id: rs771179687
• ExAC: 22:19960312 CAG / C
• gnomAD v2: 22-19960312-CAG-C
• gnomAD v4: 22-19972789-CAG-C
• MyVariant Identifiers: chr22:g.19960313_19960314del (hg19) ; chr22:g.19972790_19972791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972790_19972791del , CM000684.2:g.19972790_19972791del	GRCh38
NC_000022.10:g.19960313_19960314del , CM000684.1:g.19960313_19960314del	GRCh37
NC_000022.9:g.18340313_18340314del	NCBI36
NG_023326.1:g.48996_48997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2587_2588del MANE Select	ENSP00000263207.3:p.Leu863GlufsTer7
ENST00000263207.7:c.2587_2588del	ENSP00000263207.3:p.Leu863GlufsTer7
ENST00000401994.5:c.2398_2399del	ENSP00000384341.1:p.Leu800GlufsTer7
ENST00000406259.1:c.2569_2570del	ENSP00000385444.1:p.Leu857GlufsTer7
ENST00000406522.5:c.2380_2381del	ENSP00000384732.1:p.Leu794GlufsTer7
ENST00000495096.5:n.1509_1510del
NM_001670.2:c.2587_2588del	NP_001661.1:p.Leu863GlufsTer7
XM_005261242.1:c.2569_2570del	XP_005261299.1:p.Leu857GlufsTer7
XM_005261243.3:c.2569_2570del	XP_005261300.1:p.Leu857GlufsTer7
XM_005261244.3:c.2569_2570del	XP_005261301.1:p.Leu857GlufsTer7
XM_006724243.1:c.2587_2588del	XP_006724306.1:p.Leu863GlufsTer7
XM_006724245.2:c.2587_2588del	XP_006724308.1:p.Leu863GlufsTer7
XM_006724246.2:c.2341_2342del	XP_006724309.1:p.Leu781GlufsTer7
XM_006724247.2:c.2398_2399del	XP_006724310.1:p.Leu800GlufsTer7
XM_006724248.2:c.2380_2381del	XP_006724311.1:p.Leu794GlufsTer7
XM_011530179.1:c.2554_2555del	XP_011528481.1:p.Leu852GlufsTer7
XM_011530180.1:c.2587_2588del	XP_011528482.1:p.Leu863GlufsTer7
XM_011530182.1:c.1153_1154del	XP_011528484.1:p.Leu385GlufsTer7
XM_011530183.1:c.1135_1136del	XP_011528485.1:p.Leu379GlufsTer7
XR_937863.1:n.2674_2675del
XR_937864.1:n.2674_2675del
XM_005261242.3:c.2569_2570del	XP_005261299.1:p.Leu857GlufsTer7
XM_005261243.4:c.2569_2570del	XP_005261300.1:p.Leu857GlufsTer7
XM_005261244.4:c.2569_2570del	XP_005261301.1:p.Leu857GlufsTer7
XM_006724243.3:c.2587_2588del	XP_006724306.1:p.Leu863GlufsTer7
XM_006724245.3:c.2587_2588del	XP_006724308.1:p.Leu863GlufsTer7
XM_006724246.4:c.2341_2342del	XP_006724309.1:p.Leu781GlufsTer7
XM_006724247.4:c.2398_2399del	XP_006724310.1:p.Leu800GlufsTer7
XM_006724248.4:c.2380_2381del	XP_006724311.1:p.Leu794GlufsTer7
XM_011530179.3:c.2554_2555del	XP_011528481.1:p.Leu852GlufsTer7
XM_011530182.3:c.1153_1154del	XP_011528484.1:p.Leu385GlufsTer7
XM_011530183.3:c.1135_1136del	XP_011528485.1:p.Leu379GlufsTer7
XM_024452249.1:c.2341_2342del	XP_024308017.1:p.Leu781GlufsTer7
XR_937863.2:n.2674_2675del
NM_001670.3:c.2587_2588del MANE Select	NP_001661.1:p.Leu863GlufsTer7