Canonical Allele Identifier: CA638364262

Gene: ARVCF

Linked Data

• dbSNP Id: rs1247934161
• gnomAD v2: 22-19959960-CTGCA-C
• gnomAD v4: 22-19972437-CTGCA-C
• MyVariant Identifiers: chr22:g.19959961_19959964del (hg19) ; chr22:g.19972438_19972441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972440_19972443del , CM000684.2:g.19972440_19972443del	GRCh38
NC_000022.10:g.19959963_19959966del , CM000684.1:g.19959963_19959966del	GRCh37
NC_000022.9:g.18339963_18339966del	NCBI36
NG_023326.1:g.49346_49349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2642-30_2642-27del MANE Select	ENSP00000263207.3:n.2642-30_2642-27del
ENST00000263207.7:c.2642-30_2642-27del	ENSP00000263207.3:n.2642-30_2642-27del
ENST00000401994.5:c.2453-30_2453-27del	ENSP00000384341.1:n.2453-30_2453-27del
ENST00000406259.1:c.2624-30_2624-27del	ENSP00000385444.1:n.2624-30_2624-27del
ENST00000406522.5:c.2435-30_2435-27del	ENSP00000384732.1:n.2435-30_2435-27del
ENST00000495096.5:n.1564-30_1564-27del
NM_001670.2:c.2642-30_2642-27del	NP_001661.1:n.2642-30_2642-27del
XM_005261242.1:c.2624-30_2624-27del	XP_005261299.1:n.2624-30_2624-27del
XM_005261243.3:c.2624-30_2624-27del	XP_005261300.1:n.2624-30_2624-27del
XM_005261244.3:c.2624-30_2624-27del	XP_005261301.1:n.2624-30_2624-27del
XM_006724243.1:c.2642-30_2642-27del	XP_006724306.1:n.2642-30_2642-27del
XM_006724245.2:c.2642-30_2642-27del	XP_006724308.1:n.2642-30_2642-27del
XM_006724246.2:c.2396-30_2396-27del	XP_006724309.1:n.2396-30_2396-27del
XM_006724247.2:c.2453-30_2453-27del	XP_006724310.1:n.2453-30_2453-27del
XM_006724248.2:c.2435-30_2435-27del	XP_006724311.1:n.2435-30_2435-27del
XM_011530179.1:c.2609-30_2609-27del	XP_011528481.1:n.2609-30_2609-27del
XM_011530180.1:c.2642-30_2642-27del	XP_011528482.1:n.2642-30_2642-27del
XM_011530182.1:c.1208-30_1208-27del	XP_011528484.1:n.1208-30_1208-27del
XM_011530183.1:c.1190-30_1190-27del	XP_011528485.1:n.1190-30_1190-27del
XR_937863.1:n.2729-30_2729-27del
XR_937864.1:n.2729-30_2729-27del
XM_005261242.3:c.2624-30_2624-27del	XP_005261299.1:n.2624-30_2624-27del
XM_005261243.4:c.2624-30_2624-27del	XP_005261300.1:n.2624-30_2624-27del
XM_005261244.4:c.2624-30_2624-27del	XP_005261301.1:n.2624-30_2624-27del
XM_006724243.3:c.2642-30_2642-27del	XP_006724306.1:n.2642-30_2642-27del
XM_006724245.3:c.2642-30_2642-27del	XP_006724308.1:n.2642-30_2642-27del
XM_006724246.4:c.2396-30_2396-27del	XP_006724309.1:n.2396-30_2396-27del
XM_006724247.4:c.2453-30_2453-27del	XP_006724310.1:n.2453-30_2453-27del
XM_006724248.4:c.2435-30_2435-27del	XP_006724311.1:n.2435-30_2435-27del
XM_011530179.3:c.2609-30_2609-27del	XP_011528481.1:n.2609-30_2609-27del
XM_011530182.3:c.1208-30_1208-27del	XP_011528484.1:n.1208-30_1208-27del
XM_011530183.3:c.1190-30_1190-27del	XP_011528485.1:n.1190-30_1190-27del
XM_024452249.1:c.2396-30_2396-27del	XP_024308017.1:n.2396-30_2396-27del
XR_937863.2:n.2729-30_2729-27del
NM_001670.3:c.2642-30_2642-27del MANE Select	NP_001661.1:n.2642-30_2642-27del