Canonical Allele Identifier: CA636245519

Gene: PHACTR3

Linked Data

• dbSNP Id: rs1406073498
• gnomAD v2: 20-58393506-A-AC
• gnomAD v3: 20-59818451-A-AC
• gnomAD v4: 20-59818451-A-AC
• MyVariant Identifiers: chr20:g.58393506_58393507insC (hg19) ; chr20:g.59818451_59818452insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59818451_59818452insC , CM000682.2:g.59818451_59818452insC	GRCh38
NC_000020.10:g.58393506_58393507insC , CM000682.1:g.58393506_58393507insC	GRCh37
NC_000020.9:g.57826901_57826902insC	NCBI36
NG_029537.1:g.245943_245944insC
NG_029537.2:g.245943_245944insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000371015.6:c.1328+12257_1328+12258insC MANE Select	ENSP00000360054.1:n.1328+12257_1328+12258...
ENST00000355648.8:c.1205+12257_1205+12258insC	ENSP00000347866.4:n.1205+12257_1205+12258...
ENST00000359926.7:c.1319+12257_1319+12258insC	ENSP00000353002.3:n.1319+12257_1319+12258...
ENST00000361300.4:c.995+12257_995+12258insC	ENSP00000354555.4:n.995+12257_995+12258in...
ENST00000371015.5:c.1328+12257_1328+12258insC	ENSP00000360054.1:n.1328+12257_1328+12258...
ENST00000395636.6:c.1205+12257_1205+12258insC	ENSP00000378998.2:n.1205+12257_1205+12258...
ENST00000541461.5:c.1205+12257_1205+12258insC	ENSP00000442483.1:n.1205+12257_1205+12258...
NM_001199505.1:c.1319+12257_1319+12258insC	NP_001186434.1:n.1319+12257_1319+12258ins...
NM_001199506.1:c.1205+12257_1205+12258insC	NP_001186435.1:n.1205+12257_1205+12258ins...
NM_001281507.1:c.1205+12257_1205+12258insC	NP_001268436.1:n.1205+12257_1205+12258ins...
NM_080672.4:c.1328+12257_1328+12258insC	NP_542403.1:n.1328+12257_1328+12258insC
NM_183244.1:c.1205+12257_1205+12258insC	NP_899067.1:n.1205+12257_1205+12258insC
NM_183246.1:c.995+12257_995+12258insC	NP_899069.1:n.995+12257_995+12258insC
XM_011528525.1:c.1205+12257_1205+12258insC	XP_011526827.1:n.1205+12257_1205+12258ins...
XM_011528526.1:c.1118+12257_1118+12258insC	XP_011526828.1:n.1118+12257_1118+12258ins...
XM_011528525.2:c.1205+12257_1205+12258insC	XP_011526827.1:n.1205+12257_1205+12258ins...
XM_011528526.2:c.1118+12257_1118+12258insC	XP_011526828.1:n.1118+12257_1118+12258ins...
XM_017027626.2:c.1205+12257_1205+12258insC	XP_016883115.1:n.1205+12257_1205+12258ins...
XM_017027627.2:c.1205+12257_1205+12258insC	XP_016883116.1:n.1205+12257_1205+12258ins...
XM_017027628.1:c.1109+12257_1109+12258insC	XP_016883117.1:n.1109+12257_1109+12258ins...
XM_017027629.2:c.995+12257_995+12258insC	XP_016883118.1:n.995+12257_995+12258insC
XM_017027630.1:c.995+12257_995+12258insC	XP_016883119.1:n.995+12257_995+12258insC
XM_017027631.1:c.1205+12257_1205+12258insC	XP_016883120.1:n.1205+12257_1205+12258ins...
NM_080672.5:c.1328+12257_1328+12258insC MANE Select	NP_542403.1:n.1328+12257_1328+12258insC
NM_001199506.2:c.1205+12257_1205+12258insC	NP_001186435.1:n.1205+12257_1205+12258ins...
NM_001281507.2:c.1205+12257_1205+12258insC	NP_001268436.1:n.1205+12257_1205+12258ins...
NM_183244.2:c.1205+12257_1205+12258insC	NP_899067.1:n.1205+12257_1205+12258insC
NM_183246.2:c.995+12257_995+12258insC	NP_899069.1:n.995+12257_995+12258insC