Canonical Allele Identifier: CA746125761

Gene: PHACTR3

Linked Data

• dbSNP Id: rs1170065740
• gnomAD v3: 20-59818543-A-ATT
• gnomAD v4: 20-59818543-A-ATT
• MyVariant Identifiers: chr20:g.58393598_58393599insTT (hg19) ; chr20:g.59818543_59818544insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59818546_59818547dup , CM000682.2:g.59818546_59818547dup	GRCh38
NC_000020.10:g.58393601_58393602dup , CM000682.1:g.58393601_58393602dup	GRCh37
NC_000020.9:g.57826996_57826997dup	NCBI36
NG_029537.1:g.246038_246039dup
NG_029537.2:g.246038_246039dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371015.6:c.1328+12352_1328+12353dup MANE Select	ENSP00000360054.1:n.1328+12352_1328+12353...
ENST00000355648.8:c.1205+12352_1205+12353dup	ENSP00000347866.4:n.1205+12352_1205+12353...
ENST00000359926.7:c.1319+12352_1319+12353dup	ENSP00000353002.3:n.1319+12352_1319+12353...
ENST00000361300.4:c.995+12352_995+12353dup	ENSP00000354555.4:n.995+12352_995+12353du...
ENST00000371015.5:c.1328+12352_1328+12353dup	ENSP00000360054.1:n.1328+12352_1328+12353...
ENST00000395636.6:c.1205+12352_1205+12353dup	ENSP00000378998.2:n.1205+12352_1205+12353...
ENST00000541461.5:c.1205+12352_1205+12353dup	ENSP00000442483.1:n.1205+12352_1205+12353...
NM_001199505.1:c.1319+12352_1319+12353dup	NP_001186434.1:n.1319+12352_1319+12353dup...
NM_001199506.1:c.1205+12352_1205+12353dup	NP_001186435.1:n.1205+12352_1205+12353dup...
NM_001281507.1:c.1205+12352_1205+12353dup	NP_001268436.1:n.1205+12352_1205+12353dup...
NM_080672.4:c.1328+12352_1328+12353dup	NP_542403.1:n.1328+12352_1328+12353dup
NM_183244.1:c.1205+12352_1205+12353dup	NP_899067.1:n.1205+12352_1205+12353dup
NM_183246.1:c.995+12352_995+12353dup	NP_899069.1:n.995+12352_995+12353dup
XM_011528525.1:c.1205+12352_1205+12353dup	XP_011526827.1:n.1205+12352_1205+12353dup...
XM_011528526.1:c.1118+12352_1118+12353dup	XP_011526828.1:n.1118+12352_1118+12353dup...
XM_011528525.2:c.1205+12352_1205+12353dup	XP_011526827.1:n.1205+12352_1205+12353dup...
XM_011528526.2:c.1118+12352_1118+12353dup	XP_011526828.1:n.1118+12352_1118+12353dup...
XM_017027626.2:c.1205+12352_1205+12353dup	XP_016883115.1:n.1205+12352_1205+12353dup...
XM_017027627.2:c.1205+12352_1205+12353dup	XP_016883116.1:n.1205+12352_1205+12353dup...
XM_017027628.1:c.1109+12352_1109+12353dup	XP_016883117.1:n.1109+12352_1109+12353dup...
XM_017027629.2:c.995+12352_995+12353dup	XP_016883118.1:n.995+12352_995+12353dup
XM_017027630.1:c.995+12352_995+12353dup	XP_016883119.1:n.995+12352_995+12353dup
XM_017027631.1:c.1205+12352_1205+12353dup	XP_016883120.1:n.1205+12352_1205+12353dup...
NM_080672.5:c.1328+12352_1328+12353dup MANE Select	NP_542403.1:n.1328+12352_1328+12353dup
NM_001199506.2:c.1205+12352_1205+12353dup	NP_001186435.1:n.1205+12352_1205+12353dup...
NM_001281507.2:c.1205+12352_1205+12353dup	NP_001268436.1:n.1205+12352_1205+12353dup...
NM_183244.2:c.1205+12352_1205+12353dup	NP_899067.1:n.1205+12352_1205+12353dup
NM_183246.2:c.995+12352_995+12353dup	NP_899069.1:n.995+12352_995+12353dup