Canonical Allele Identifier: CA10105057

Gene: ARVCF

Linked Data

• dbSNP Id: rs769958712
• ExAC: 22:19960422 TGGAA / T
• gnomAD v2: 22-19960422-TGGAA-T
• gnomAD v3: 22-19972899-TGGAA-T
• gnomAD v4: 22-19972899-TGGAA-T
• MyVariant Identifiers: chr22:g.19960423_19960426del (hg19) ; chr22:g.19972900_19972903del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972906_19972909del , CM000684.2:g.19972906_19972909del	GRCh38
NC_000022.10:g.19960429_19960432del , CM000684.1:g.19960429_19960432del	GRCh37
NC_000022.9:g.18340429_18340432del	NCBI36
NG_023326.1:g.48884_48887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2550+22_2550+25del MANE Select	ENSP00000263207.3:n.2550+22_2550+25del
ENST00000263207.7:c.2550+22_2550+25del	ENSP00000263207.3:n.2550+22_2550+25del
ENST00000401994.5:c.2361+22_2361+25del	ENSP00000384341.1:n.2361+22_2361+25del
ENST00000406259.1:c.2532+22_2532+25del	ENSP00000385444.1:n.2532+22_2532+25del
ENST00000406522.5:c.2343+22_2343+25del	ENSP00000384732.1:n.2343+22_2343+25del
ENST00000495096.5:n.1472+22_1472+25del
NM_001670.2:c.2550+22_2550+25del	NP_001661.1:n.2550+22_2550+25del
XM_005261242.1:c.2532+22_2532+25del	XP_005261299.1:n.2532+22_2532+25del
XM_005261243.3:c.2532+22_2532+25del	XP_005261300.1:n.2532+22_2532+25del
XM_005261244.3:c.2532+22_2532+25del	XP_005261301.1:n.2532+22_2532+25del
XM_006724243.1:c.2550+22_2550+25del	XP_006724306.1:n.2550+22_2550+25del
XM_006724245.2:c.2550+22_2550+25del	XP_006724308.1:n.2550+22_2550+25del
XM_006724246.2:c.2304+22_2304+25del	XP_006724309.1:n.2304+22_2304+25del
XM_006724247.2:c.2361+22_2361+25del	XP_006724310.1:n.2361+22_2361+25del
XM_006724248.2:c.2343+22_2343+25del	XP_006724311.1:n.2343+22_2343+25del
XM_011530179.1:c.2517+22_2517+25del	XP_011528481.1:n.2517+22_2517+25del
XM_011530180.1:c.2550+22_2550+25del	XP_011528482.1:n.2550+22_2550+25del
XM_011530182.1:c.1116+22_1116+25del	XP_011528484.1:n.1116+22_1116+25del
XM_011530183.1:c.1098+22_1098+25del	XP_011528485.1:n.1098+22_1098+25del
XR_937863.1:n.2637+22_2637+25del
XR_937864.1:n.2637+22_2637+25del
XM_005261242.3:c.2532+22_2532+25del	XP_005261299.1:n.2532+22_2532+25del
XM_005261243.4:c.2532+22_2532+25del	XP_005261300.1:n.2532+22_2532+25del
XM_005261244.4:c.2532+22_2532+25del	XP_005261301.1:n.2532+22_2532+25del
XM_006724243.3:c.2550+22_2550+25del	XP_006724306.1:n.2550+22_2550+25del
XM_006724245.3:c.2550+22_2550+25del	XP_006724308.1:n.2550+22_2550+25del
XM_006724246.4:c.2304+22_2304+25del	XP_006724309.1:n.2304+22_2304+25del
XM_006724247.4:c.2361+22_2361+25del	XP_006724310.1:n.2361+22_2361+25del
XM_006724248.4:c.2343+22_2343+25del	XP_006724311.1:n.2343+22_2343+25del
XM_011530179.3:c.2517+22_2517+25del	XP_011528481.1:n.2517+22_2517+25del
XM_011530182.3:c.1116+22_1116+25del	XP_011528484.1:n.1116+22_1116+25del
XM_011530183.3:c.1098+22_1098+25del	XP_011528485.1:n.1098+22_1098+25del
XM_024452249.1:c.2304+22_2304+25del	XP_024308017.1:n.2304+22_2304+25del
XR_937863.2:n.2637+22_2637+25del
NM_001670.3:c.2550+22_2550+25del MANE Select	NP_001661.1:n.2550+22_2550+25del