Canonical Allele Identifier: CA437476627

Gene: ATP13A3

Linked Data

• dbSNP Id: rs1331315023
• gnomAD v2: 3-194176913-TTA-T
• gnomAD v3: 3-194456184-TTA-T
• gnomAD v4: 3-194456184-TTA-T
• MyVariant Identifiers: chr3:g.194176914_194176915del (hg19) ; chr3:g.194456185_194456186del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.194456186_194456187del , CM000665.2:g.194456186_194456187del	GRCh38
NC_000003.11:g.194176915_194176916del , CM000665.1:g.194176915_194176916del	GRCh37
NC_000003.10:g.195658204_195658205del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439040.6:c.561-224_561-223del	ENSP00000416508.1:n.561-224_561-223del
ENST00000642744.2:c.561-224_561-223del	ENSP00000493923.2:n.561-224_561-223del
ENST00000687055.1:n.1353-224_1353-223del
ENST00000690810.1:n.502-224_502-223del
ENST00000642744.1:c.480-224_480-223del	ENSP00000493923.1:n.480-224_480-223del
ENST00000645319.2:c.561-224_561-223del MANE Select	ENSP00000494937.2:n.561-224_561-223del
ENST00000645538.1:c.561-224_561-223del	ENSP00000494471.1:n.561-224_561-223del
ENST00000256031.8:c.561-224_561-223del	ENSP00000256031.4:n.561-224_561-223del
ENST00000439040.5:c.561-224_561-223del	ENSP00000416508.1:n.561-224_561-223del
NM_024524.3:c.561-224_561-223del	NP_078800.3:n.561-224_561-223del
XM_005269357.2:c.561-224_561-223del	XP_005269414.1:n.561-224_561-223del
XM_005269360.3:c.561-224_561-223del	XP_005269417.1:n.561-224_561-223del
XM_011513120.1:c.561-224_561-223del	XP_011511422.1:n.561-224_561-223del
XM_011513121.1:c.561-224_561-223del	XP_011511423.1:n.561-224_561-223del
XM_011513122.1:c.480-224_480-223del	XP_011511424.1:n.480-224_480-223del
XM_011513123.1:c.561-224_561-223del	XP_011511425.1:n.561-224_561-223del
XM_011513124.1:c.561-224_561-223del	XP_011511426.1:n.561-224_561-223del
XM_005269357.3:c.561-224_561-223del	XP_005269414.1:n.561-224_561-223del
XM_011513120.2:c.561-224_561-223del	XP_011511422.1:n.561-224_561-223del
XM_011513123.2:c.561-224_561-223del	XP_011511425.1:n.561-224_561-223del
XM_011513124.3:c.561-224_561-223del	XP_011511426.1:n.561-224_561-223del
NM_001367549.1:c.561-224_561-223del MANE Select	NP_001354478.1:n.561-224_561-223del
NM_001374836.1:c.480-224_480-223del	NP_001361765.1:n.480-224_480-223del
NR_164666.1:n.1077-224_1077-223del
NR_164667.1:n.1086-224_1086-223del
NM_024524.4:c.561-224_561-223del	NP_078800.3:n.561-224_561-223del