Canonical Allele Identifier: CA2655342622

Gene: ARVCF

Linked Data

• gnomAD v4: 22-19972985-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972989_19972990del , CM000684.2:g.19972989_19972990del	GRCh38
NC_000022.10:g.19960512_19960513del , CM000684.1:g.19960512_19960513del	GRCh37
NC_000022.9:g.18340512_18340513del	NCBI36
NG_023326.1:g.48800_48801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2488_2489del MANE Select	ENSP00000263207.3:p.Trp830GlufsTer30
ENST00000263207.7:c.2488_2489del	ENSP00000263207.3:p.Trp830GlufsTer30
ENST00000401994.5:c.2299_2300del	ENSP00000384341.1:p.Trp767GlufsTer30
ENST00000406259.1:c.2470_2471del	ENSP00000385444.1:p.Trp824GlufsTer30
ENST00000406522.5:c.2281_2282del	ENSP00000384732.1:p.Trp761GlufsTer30
ENST00000495096.5:n.1410_1411del
NM_001670.2:c.2488_2489del	NP_001661.1:p.Trp830GlufsTer30
XM_005261242.1:c.2470_2471del	XP_005261299.1:p.Trp824GlufsTer30
XM_005261243.3:c.2470_2471del	XP_005261300.1:p.Trp824GlufsTer30
XM_005261244.3:c.2470_2471del	XP_005261301.1:p.Trp824GlufsTer30
XM_006724243.1:c.2488_2489del	XP_006724306.1:p.Trp830GlufsTer30
XM_006724245.2:c.2488_2489del	XP_006724308.1:p.Trp830GlufsTer30
XM_006724246.2:c.2242_2243del	XP_006724309.1:p.Trp748GlufsTer30
XM_006724247.2:c.2299_2300del	XP_006724310.1:p.Trp767GlufsTer30
XM_006724248.2:c.2281_2282del	XP_006724311.1:p.Trp761GlufsTer30
XM_011530179.1:c.2455_2456del	XP_011528481.1:p.Trp819GlufsTer30
XM_011530180.1:c.2488_2489del	XP_011528482.1:p.Trp830GlufsTer30
XM_011530182.1:c.1054_1055del	XP_011528484.1:p.Trp352GlufsTer30
XM_011530183.1:c.1036_1037del	XP_011528485.1:p.Trp346GlufsTer30
XR_937863.1:n.2575_2576del
XR_937864.1:n.2575_2576del
XM_005261242.3:c.2470_2471del	XP_005261299.1:p.Trp824GlufsTer30
XM_005261243.4:c.2470_2471del	XP_005261300.1:p.Trp824GlufsTer30
XM_005261244.4:c.2470_2471del	XP_005261301.1:p.Trp824GlufsTer30
XM_006724243.3:c.2488_2489del	XP_006724306.1:p.Trp830GlufsTer30
XM_006724245.3:c.2488_2489del	XP_006724308.1:p.Trp830GlufsTer30
XM_006724246.4:c.2242_2243del	XP_006724309.1:p.Trp748GlufsTer30
XM_006724247.4:c.2299_2300del	XP_006724310.1:p.Trp767GlufsTer30
XM_006724248.4:c.2281_2282del	XP_006724311.1:p.Trp761GlufsTer30
XM_011530179.3:c.2455_2456del	XP_011528481.1:p.Trp819GlufsTer30
XM_011530182.3:c.1054_1055del	XP_011528484.1:p.Trp352GlufsTer30
XM_011530183.3:c.1036_1037del	XP_011528485.1:p.Trp346GlufsTer30
XM_024452249.1:c.2242_2243del	XP_024308017.1:p.Trp748GlufsTer30
XR_937863.2:n.2575_2576del
NM_001670.3:c.2488_2489del MANE Select	NP_001661.1:p.Trp830GlufsTer30