Canonical Allele Identifier: CA1024139645

Gene: ARVCF

Linked Data

• gnomAD v3: 22-19972242-AACC-A
• gnomAD v4: 22-19972242-AACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972244_19972246del , CM000684.2:g.19972244_19972246del	GRCh38
NC_000022.10:g.19959767_19959769del , CM000684.1:g.19959767_19959769del	GRCh37
NC_000022.9:g.18339767_18339769del	NCBI36
NG_023326.1:g.49542_49544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2695+113_2695+115del MANE Select	ENSP00000263207.3:n.2695+113_2695+115del
ENST00000263207.7:c.2695+113_2695+115del	ENSP00000263207.3:n.2695+113_2695+115del
ENST00000401994.5:c.2506+113_2506+115del	ENSP00000384341.1:n.2506+113_2506+115del
ENST00000406259.1:c.2677+113_2677+115del	ENSP00000385444.1:n.2677+113_2677+115del
ENST00000406522.5:c.2488+113_2488+115del	ENSP00000384732.1:n.2488+113_2488+115del
ENST00000495096.5:n.1617+113_1617+115del
NM_001670.2:c.2695+113_2695+115del	NP_001661.1:n.2695+113_2695+115del
XM_005261242.1:c.2677+113_2677+115del	XP_005261299.1:n.2677+113_2677+115del
XM_005261243.3:c.2677+113_2677+115del	XP_005261300.1:n.2677+113_2677+115del
XM_005261244.3:c.2677+113_2677+115del	XP_005261301.1:n.2677+113_2677+115del
XM_006724243.1:c.2695+113_2695+115del	XP_006724306.1:n.2695+113_2695+115del
XM_006724245.2:c.2695+113_2695+115del	XP_006724308.1:n.2695+113_2695+115del
XM_006724246.2:c.2449+113_2449+115del	XP_006724309.1:n.2449+113_2449+115del
XM_006724247.2:c.2506+113_2506+115del	XP_006724310.1:n.2506+113_2506+115del
XM_006724248.2:c.2488+113_2488+115del	XP_006724311.1:n.2488+113_2488+115del
XM_011530179.1:c.2662+113_2662+115del	XP_011528481.1:n.2662+113_2662+115del
XM_011530180.1:c.2695+113_2695+115del	XP_011528482.1:n.2695+113_2695+115del
XM_011530182.1:c.1261+113_1261+115del	XP_011528484.1:n.1261+113_1261+115del
XM_011530183.1:c.1243+113_1243+115del	XP_011528485.1:n.1243+113_1243+115del
XR_937863.1:n.2782+113_2782+115del
XR_937864.1:n.2782+113_2782+115del
XM_005261242.3:c.2677+113_2677+115del	XP_005261299.1:n.2677+113_2677+115del
XM_005261243.4:c.2677+113_2677+115del	XP_005261300.1:n.2677+113_2677+115del
XM_005261244.4:c.2677+113_2677+115del	XP_005261301.1:n.2677+113_2677+115del
XM_006724243.3:c.2695+113_2695+115del	XP_006724306.1:n.2695+113_2695+115del
XM_006724245.3:c.2695+113_2695+115del	XP_006724308.1:n.2695+113_2695+115del
XM_006724246.4:c.2449+113_2449+115del	XP_006724309.1:n.2449+113_2449+115del
XM_006724247.4:c.2506+113_2506+115del	XP_006724310.1:n.2506+113_2506+115del
XM_006724248.4:c.2488+113_2488+115del	XP_006724311.1:n.2488+113_2488+115del
XM_011530179.3:c.2662+113_2662+115del	XP_011528481.1:n.2662+113_2662+115del
XM_011530182.3:c.1261+113_1261+115del	XP_011528484.1:n.1261+113_1261+115del
XM_011530183.3:c.1243+113_1243+115del	XP_011528485.1:n.1243+113_1243+115del
XM_024452249.1:c.2449+113_2449+115del	XP_024308017.1:n.2449+113_2449+115del
XR_937863.2:n.2782+113_2782+115del
NM_001670.3:c.2695+113_2695+115del MANE Select	NP_001661.1:n.2695+113_2695+115del