Canonical Allele Identifier: CA751487647

Gene: ARVCF

Linked Data

• dbSNP Id: rs1289988277
• MyVariant Identifiers: chr22:g.19960471_19960472insTT (hg19) ; chr22:g.19972948_19972949insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972948_19972949insTT , CM000684.2:g.19972948_19972949insTT	GRCh38
NC_000022.10:g.19960471_19960472insTT , CM000684.1:g.19960471_19960472insTT	GRCh37
NC_000022.9:g.18340471_18340472insTT	NCBI36
NG_023326.1:g.48838_48839insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2526_2527insAA MANE Select	ENSP00000263207.3:p.Gly843LysfsTer22
ENST00000263207.7:c.2526_2527insAA	ENSP00000263207.3:p.Gly843LysfsTer22
ENST00000401994.5:c.2337_2338insAA	ENSP00000384341.1:p.Gly780LysfsTer22
ENST00000406259.1:c.2508_2509insAA	ENSP00000385444.1:p.Gly837LysfsTer22
ENST00000406522.5:c.2319_2320insAA	ENSP00000384732.1:p.Gly774LysfsTer22
ENST00000495096.5:n.1448_1449insAA
NM_001670.2:c.2526_2527insAA	NP_001661.1:p.Gly843LysfsTer22
XM_005261242.1:c.2508_2509insAA	XP_005261299.1:p.Gly837LysfsTer22
XM_005261243.3:c.2508_2509insAA	XP_005261300.1:p.Gly837LysfsTer22
XM_005261244.3:c.2508_2509insAA	XP_005261301.1:p.Gly837LysfsTer22
XM_006724243.1:c.2526_2527insAA	XP_006724306.1:p.Gly843LysfsTer22
XM_006724245.2:c.2526_2527insAA	XP_006724308.1:p.Gly843LysfsTer22
XM_006724246.2:c.2280_2281insAA	XP_006724309.1:p.Gly761LysfsTer22
XM_006724247.2:c.2337_2338insAA	XP_006724310.1:p.Gly780LysfsTer22
XM_006724248.2:c.2319_2320insAA	XP_006724311.1:p.Gly774LysfsTer22
XM_011530179.1:c.2493_2494insAA	XP_011528481.1:p.Gly832LysfsTer22
XM_011530180.1:c.2526_2527insAA	XP_011528482.1:p.Gly843LysfsTer22
XM_011530182.1:c.1092_1093insAA	XP_011528484.1:p.Gly365LysfsTer22
XM_011530183.1:c.1074_1075insAA	XP_011528485.1:p.Gly359LysfsTer22
XR_937863.1:n.2613_2614insAA
XR_937864.1:n.2613_2614insAA
XM_005261242.3:c.2508_2509insAA	XP_005261299.1:p.Gly837LysfsTer22
XM_005261243.4:c.2508_2509insAA	XP_005261300.1:p.Gly837LysfsTer22
XM_005261244.4:c.2508_2509insAA	XP_005261301.1:p.Gly837LysfsTer22
XM_006724243.3:c.2526_2527insAA	XP_006724306.1:p.Gly843LysfsTer22
XM_006724245.3:c.2526_2527insAA	XP_006724308.1:p.Gly843LysfsTer22
XM_006724246.4:c.2280_2281insAA	XP_006724309.1:p.Gly761LysfsTer22
XM_006724247.4:c.2337_2338insAA	XP_006724310.1:p.Gly780LysfsTer22
XM_006724248.4:c.2319_2320insAA	XP_006724311.1:p.Gly774LysfsTer22
XM_011530179.3:c.2493_2494insAA	XP_011528481.1:p.Gly832LysfsTer22
XM_011530182.3:c.1092_1093insAA	XP_011528484.1:p.Gly365LysfsTer22
XM_011530183.3:c.1074_1075insAA	XP_011528485.1:p.Gly359LysfsTer22
XM_024452249.1:c.2280_2281insAA	XP_024308017.1:p.Gly761LysfsTer22
XR_937863.2:n.2613_2614insAA
NM_001670.3:c.2526_2527insAA MANE Select	NP_001661.1:p.Gly843LysfsTer22