Canonical Allele Identifier: CA1024141620

Gene: ARVCF

Linked Data

• gnomAD v3: 22-19974593-TAGGGCCCACCCTCCCTGGCAACAAGACCAGCATTGGCCAGTAACTGAGAGTTGTATAACCAAGGCCACACCCCTAGCAAGAGGACCTGCTTTCACCAGTAACTGAAGCTGTGCAGAGAGCTACGCCCCCTAGCAAC-T
• gnomAD v4: 22-19974593-TAGGGCCCACCCTCCCTGGCAACAAGACCAGCATTGGCCAGTAACTGAGAGTTGTATAACCAAGGCCACACCCCTAGCAAGAGGACCTGCTTTCACCAGTAACTGAAGCTGTGCAGAGAGCTACGCCCCCTAGCAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19974609_19974744del , CM000684.2:g.19974609_19974744del	GRCh38
NC_000022.10:g.19962132_19962267del , CM000684.1:g.19962132_19962267del	GRCh37
NC_000022.9:g.18342132_18342267del	NCBI36
NG_023326.1:g.47058_47193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263207.8:c.1961-490_1961-355del MANE Select	ENSP00000263207.3:n.1961-490_1961-355del
ENST00000263207.7:c.1961-490_1961-355del	ENSP00000263207.3:n.1961-490_1961-355del
ENST00000401994.5:c.1772-490_1772-355del	ENSP00000384341.1:n.1772-490_1772-355del
ENST00000406259.1:c.1943-490_1943-355del	ENSP00000385444.1:n.1943-490_1943-355del
ENST00000406522.5:c.1754-490_1754-355del	ENSP00000384732.1:n.1754-490_1754-355del
ENST00000480792.1:n.78-451_78-316del
ENST00000495096.5:n.883-490_883-355del
NM_001670.2:c.1961-490_1961-355del	NP_001661.1:n.1961-490_1961-355del
XM_005261242.1:c.1943-490_1943-355del	XP_005261299.1:n.1943-490_1943-355del
XM_005261243.3:c.1943-490_1943-355del	XP_005261300.1:n.1943-490_1943-355del
XM_005261244.3:c.1943-490_1943-355del	XP_005261301.1:n.1943-490_1943-355del
XM_006724243.1:c.1961-490_1961-355del	XP_006724306.1:n.1961-490_1961-355del
XM_006724245.2:c.1961-490_1961-355del	XP_006724308.1:n.1961-490_1961-355del
XM_006724246.2:c.1715-490_1715-355del	XP_006724309.1:n.1715-490_1715-355del
XM_006724247.2:c.1772-490_1772-355del	XP_006724310.1:n.1772-490_1772-355del
XM_006724248.2:c.1754-490_1754-355del	XP_006724311.1:n.1754-490_1754-355del
XM_006724249.2:c.1961-242_1961-107del	XP_006724312.1:n.1961-242_1961-107del
XM_006724250.2:c.1943-242_1943-107del	XP_006724313.1:n.1943-242_1943-107del
XM_011530179.1:c.1928-490_1928-355del	XP_011528481.1:n.1928-490_1928-355del
XM_011530180.1:c.1961-490_1961-355del	XP_011528482.1:n.1961-490_1961-355del
XM_011530182.1:c.527-490_527-355del	XP_011528484.1:n.527-490_527-355del
XM_011530183.1:c.509-490_509-355del	XP_011528485.1:n.509-490_509-355del
XR_937863.1:n.2247-490_2247-355del
XR_937864.1:n.2247-490_2247-355del
XM_005261242.3:c.1943-490_1943-355del	XP_005261299.1:n.1943-490_1943-355del
XM_005261243.4:c.1943-490_1943-355del	XP_005261300.1:n.1943-490_1943-355del
XM_005261244.4:c.1943-490_1943-355del	XP_005261301.1:n.1943-490_1943-355del
XM_006724243.3:c.1961-490_1961-355del	XP_006724306.1:n.1961-490_1961-355del
XM_006724245.3:c.1961-490_1961-355del	XP_006724308.1:n.1961-490_1961-355del
XM_006724246.4:c.1715-490_1715-355del	XP_006724309.1:n.1715-490_1715-355del
XM_006724247.4:c.1772-490_1772-355del	XP_006724310.1:n.1772-490_1772-355del
XM_006724248.4:c.1754-490_1754-355del	XP_006724311.1:n.1754-490_1754-355del
XM_006724249.3:c.1961-242_1961-107del	XP_006724312.1:n.1961-242_1961-107del
XM_006724250.3:c.1943-242_1943-107del	XP_006724313.1:n.1943-242_1943-107del
XM_011530179.3:c.1928-490_1928-355del	XP_011528481.1:n.1928-490_1928-355del
XM_011530182.3:c.527-490_527-355del	XP_011528484.1:n.527-490_527-355del
XM_011530183.3:c.509-490_509-355del	XP_011528485.1:n.509-490_509-355del
XM_024452249.1:c.1715-490_1715-355del	XP_024308017.1:n.1715-490_1715-355del
XR_937863.2:n.2247-490_2247-355del
NM_001670.3:c.1961-490_1961-355del MANE Select	NP_001661.1:n.1961-490_1961-355del