Canonical Allele Identifier: CA2396130862

Gene: ARVCF

Linked Data

• dbSNP Id: rs1942902436
• gnomAD v4: 22-19972883-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972885_19972886del , CM000684.2:g.19972885_19972886del	GRCh38
NC_000022.10:g.19960408_19960409del , CM000684.1:g.19960408_19960409del	GRCh37
NC_000022.9:g.18340408_18340409del	NCBI36
NG_023326.1:g.48902_48903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2550+40_2550+41del MANE Select	ENSP00000263207.3:n.2550+40_2550+41del
ENST00000263207.7:c.2550+40_2550+41del	ENSP00000263207.3:n.2550+40_2550+41del
ENST00000401994.5:c.2361+40_2361+41del	ENSP00000384341.1:n.2361+40_2361+41del
ENST00000406259.1:c.2532+40_2532+41del	ENSP00000385444.1:n.2532+40_2532+41del
ENST00000406522.5:c.2343+40_2343+41del	ENSP00000384732.1:n.2343+40_2343+41del
ENST00000495096.5:n.1472+40_1472+41del
NM_001670.2:c.2550+40_2550+41del	NP_001661.1:n.2550+40_2550+41del
XM_005261242.1:c.2532+40_2532+41del	XP_005261299.1:n.2532+40_2532+41del
XM_005261243.3:c.2532+40_2532+41del	XP_005261300.1:n.2532+40_2532+41del
XM_005261244.3:c.2532+40_2532+41del	XP_005261301.1:n.2532+40_2532+41del
XM_006724243.1:c.2550+40_2550+41del	XP_006724306.1:n.2550+40_2550+41del
XM_006724245.2:c.2550+40_2550+41del	XP_006724308.1:n.2550+40_2550+41del
XM_006724246.2:c.2304+40_2304+41del	XP_006724309.1:n.2304+40_2304+41del
XM_006724247.2:c.2361+40_2361+41del	XP_006724310.1:n.2361+40_2361+41del
XM_006724248.2:c.2343+40_2343+41del	XP_006724311.1:n.2343+40_2343+41del
XM_011530179.1:c.2517+40_2517+41del	XP_011528481.1:n.2517+40_2517+41del
XM_011530180.1:c.2550+40_2550+41del	XP_011528482.1:n.2550+40_2550+41del
XM_011530182.1:c.1116+40_1116+41del	XP_011528484.1:n.1116+40_1116+41del
XM_011530183.1:c.1098+40_1098+41del	XP_011528485.1:n.1098+40_1098+41del
XR_937863.1:n.2637+40_2637+41del
XR_937864.1:n.2637+40_2637+41del
XM_005261242.3:c.2532+40_2532+41del	XP_005261299.1:n.2532+40_2532+41del
XM_005261243.4:c.2532+40_2532+41del	XP_005261300.1:n.2532+40_2532+41del
XM_005261244.4:c.2532+40_2532+41del	XP_005261301.1:n.2532+40_2532+41del
XM_006724243.3:c.2550+40_2550+41del	XP_006724306.1:n.2550+40_2550+41del
XM_006724245.3:c.2550+40_2550+41del	XP_006724308.1:n.2550+40_2550+41del
XM_006724246.4:c.2304+40_2304+41del	XP_006724309.1:n.2304+40_2304+41del
XM_006724247.4:c.2361+40_2361+41del	XP_006724310.1:n.2361+40_2361+41del
XM_006724248.4:c.2343+40_2343+41del	XP_006724311.1:n.2343+40_2343+41del
XM_011530179.3:c.2517+40_2517+41del	XP_011528481.1:n.2517+40_2517+41del
XM_011530182.3:c.1116+40_1116+41del	XP_011528484.1:n.1116+40_1116+41del
XM_011530183.3:c.1098+40_1098+41del	XP_011528485.1:n.1098+40_1098+41del
XM_024452249.1:c.2304+40_2304+41del	XP_024308017.1:n.2304+40_2304+41del
XR_937863.2:n.2637+40_2637+41del
NM_001670.3:c.2550+40_2550+41del MANE Select	NP_001661.1:n.2550+40_2550+41del