Canonical Allele Identifier: CA2655342620

Gene: ARVCF

Linked Data

• gnomAD v4: 22-19972930-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19972935_19972936dup , CM000684.2:g.19972935_19972936dup	GRCh38
NC_000022.10:g.19960458_19960459dup , CM000684.1:g.19960458_19960459dup	GRCh37
NC_000022.9:g.18340458_18340459dup	NCBI36
NG_023326.1:g.48855_48856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.2543_2544dup MANE Select	ENSP00000263207.3:p.Phe849AlafsTer16
ENST00000263207.7:c.2543_2544dup	ENSP00000263207.3:p.Phe849AlafsTer16
ENST00000401994.5:c.2354_2355dup	ENSP00000384341.1:p.Phe786AlafsTer16
ENST00000406259.1:c.2525_2526dup	ENSP00000385444.1:p.Phe843AlafsTer16
ENST00000406522.5:c.2336_2337dup	ENSP00000384732.1:p.Phe780AlafsTer16
ENST00000495096.5:n.1465_1466dup
NM_001670.2:c.2543_2544dup	NP_001661.1:p.Phe849AlafsTer16
XM_005261242.1:c.2525_2526dup	XP_005261299.1:p.Phe843AlafsTer16
XM_005261243.3:c.2525_2526dup	XP_005261300.1:p.Phe843AlafsTer16
XM_005261244.3:c.2525_2526dup	XP_005261301.1:p.Phe843AlafsTer16
XM_006724243.1:c.2543_2544dup	XP_006724306.1:p.Phe849AlafsTer16
XM_006724245.2:c.2543_2544dup	XP_006724308.1:p.Phe849AlafsTer16
XM_006724246.2:c.2297_2298dup	XP_006724309.1:p.Phe767AlafsTer16
XM_006724247.2:c.2354_2355dup	XP_006724310.1:p.Phe786AlafsTer16
XM_006724248.2:c.2336_2337dup	XP_006724311.1:p.Phe780AlafsTer16
XM_011530179.1:c.2510_2511dup	XP_011528481.1:p.Phe838AlafsTer16
XM_011530180.1:c.2543_2544dup	XP_011528482.1:p.Phe849AlafsTer16
XM_011530182.1:c.1109_1110dup	XP_011528484.1:p.Phe371AlafsTer16
XM_011530183.1:c.1091_1092dup	XP_011528485.1:p.Phe365AlafsTer16
XR_937863.1:n.2630_2631dup
XR_937864.1:n.2630_2631dup
XM_005261242.3:c.2525_2526dup	XP_005261299.1:p.Phe843AlafsTer16
XM_005261243.4:c.2525_2526dup	XP_005261300.1:p.Phe843AlafsTer16
XM_005261244.4:c.2525_2526dup	XP_005261301.1:p.Phe843AlafsTer16
XM_006724243.3:c.2543_2544dup	XP_006724306.1:p.Phe849AlafsTer16
XM_006724245.3:c.2543_2544dup	XP_006724308.1:p.Phe849AlafsTer16
XM_006724246.4:c.2297_2298dup	XP_006724309.1:p.Phe767AlafsTer16
XM_006724247.4:c.2354_2355dup	XP_006724310.1:p.Phe786AlafsTer16
XM_006724248.4:c.2336_2337dup	XP_006724311.1:p.Phe780AlafsTer16
XM_011530179.3:c.2510_2511dup	XP_011528481.1:p.Phe838AlafsTer16
XM_011530182.3:c.1109_1110dup	XP_011528484.1:p.Phe371AlafsTer16
XM_011530183.3:c.1091_1092dup	XP_011528485.1:p.Phe365AlafsTer16
XM_024452249.1:c.2297_2298dup	XP_024308017.1:p.Phe767AlafsTer16
XR_937863.2:n.2630_2631dup
NM_001670.3:c.2543_2544dup MANE Select	NP_001661.1:p.Phe849AlafsTer16