Canonical Allele Identifier: CA10105093

Gene: ARVCF

Linked Data

• dbSNP Id: rs773118785
• ExAC: 22:19960512 ACT / A
• gnomAD v2: 22-19960512-ACT-A
• gnomAD v4: 22-19972989-ACT-A
• MyVariant Identifiers: chr22:g.19960513_19960514del (hg19) ; chr22:g.19972990_19972991del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972990_19972991del , CM000684.2:g.19972990_19972991del	GRCh38
NC_000022.10:g.19960513_19960514del , CM000684.1:g.19960513_19960514del	GRCh37
NC_000022.9:g.18340513_18340514del	NCBI36
NG_023326.1:g.48796_48797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2484_2485del MANE Select	ENSP00000263207.3:p.Trp830GlufsTer?
ENST00000263207.7:c.2484_2485del	ENSP00000263207.3:p.Trp830GlufsTer?
ENST00000401994.5:c.2295_2296del	ENSP00000384341.1:p.Trp767GlufsTer?
ENST00000406259.1:c.2466_2467del	ENSP00000385444.1:p.Trp824GlufsTer?
ENST00000406522.5:c.2277_2278del	ENSP00000384732.1:p.Trp761GlufsTer?
ENST00000495096.5:n.1406_1407del
NM_001670.2:c.2484_2485del	NP_001661.1:p.Trp830GlufsTer?
XM_005261242.1:c.2466_2467del	XP_005261299.1:p.Trp824GlufsTer?
XM_005261243.3:c.2466_2467del	XP_005261300.1:p.Trp824GlufsTer?
XM_005261244.3:c.2466_2467del	XP_005261301.1:p.Trp824GlufsTer?
XM_006724243.1:c.2484_2485del	XP_006724306.1:p.Trp830GlufsTer?
XM_006724245.2:c.2484_2485del	XP_006724308.1:p.Trp830GlufsTer?
XM_006724246.2:c.2238_2239del	XP_006724309.1:p.Trp748GlufsTer?
XM_006724247.2:c.2295_2296del	XP_006724310.1:p.Trp767GlufsTer?
XM_006724248.2:c.2277_2278del	XP_006724311.1:p.Trp761GlufsTer?
XM_011530179.1:c.2451_2452del	XP_011528481.1:p.Trp819GlufsTer?
XM_011530180.1:c.2484_2485del	XP_011528482.1:p.Trp830GlufsTer?
XM_011530182.1:c.1050_1051del	XP_011528484.1:p.Trp352GlufsTer?
XM_011530183.1:c.1032_1033del	XP_011528485.1:p.Trp346GlufsTer?
XR_937863.1:n.2571_2572del
XR_937864.1:n.2571_2572del
XM_005261242.3:c.2466_2467del	XP_005261299.1:p.Trp824GlufsTer?
XM_005261243.4:c.2466_2467del	XP_005261300.1:p.Trp824GlufsTer?
XM_005261244.4:c.2466_2467del	XP_005261301.1:p.Trp824GlufsTer?
XM_006724243.3:c.2484_2485del	XP_006724306.1:p.Trp830GlufsTer?
XM_006724245.3:c.2484_2485del	XP_006724308.1:p.Trp830GlufsTer?
XM_006724246.4:c.2238_2239del	XP_006724309.1:p.Trp748GlufsTer?
XM_006724247.4:c.2295_2296del	XP_006724310.1:p.Trp767GlufsTer?
XM_006724248.4:c.2277_2278del	XP_006724311.1:p.Trp761GlufsTer?
XM_011530179.3:c.2451_2452del	XP_011528481.1:p.Trp819GlufsTer?
XM_011530182.3:c.1050_1051del	XP_011528484.1:p.Trp352GlufsTer?
XM_011530183.3:c.1032_1033del	XP_011528485.1:p.Trp346GlufsTer?
XM_024452249.1:c.2238_2239del	XP_024308017.1:p.Trp748GlufsTer?
XR_937863.2:n.2571_2572del
NM_001670.3:c.2484_2485del MANE Select	NP_001661.1:p.Trp830GlufsTer?