Canonical Allele Identifier: CA418754550

Gene: TGFBR3

Linked Data

• dbSNP Id: rs1671756114
• gnomAD v3: 1-91705220-C-CT
• gnomAD v4: 1-91705220-C-CT
• MyVariant Identifiers: chr1:g.92170777_92170778insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91705224dup , CM000663.2:g.91705224dup	GRCh38
NC_000001.10:g.92170781dup , CM000663.1:g.92170781dup	GRCh37
NC_000001.9:g.91943369dup	NCBI36
NG_027757.1:g.205782dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000212355.9:c.2287+3442dup MANE Select	ENSP00000212355.4:n.2287+3442dup
ENST00000212355.8:c.2287+3442dup	ENSP00000212355.4:n.2287+3442dup
ENST00000370399.6:c.2284+3442dup	ENSP00000359426.2:n.2284+3442dup
ENST00000465892.6:c.2284+3442dup	ENSP00000432638.1:n.2284+3442dup
ENST00000470600.1:n.242+3442dup
ENST00000525962.5:c.2287+3442dup	ENSP00000436127.1:n.2287+3442dup
ENST00000532540.5:c.*2234+3442dup	ENSP00000434994.1:n.*2234+3442dup
ENST00000533089.5:c.*2005+3442dup	ENSP00000433477.1:n.*2005+3442dup
NM_001195683.1:c.2284+3442dup	NP_001182612.1:n.2284+3442dup
NM_001195684.1:c.2284+3442dup	NP_001182613.1:n.2284+3442dup
NM_003243.4:c.2287+3442dup	NP_003234.2:n.2287+3442dup
NR_036634.1:n.2899+3442dup
XM_006710867.1:c.2287+3442dup	XP_006710930.1:n.2287+3442dup
XM_006710868.1:c.2287+3442dup	XP_006710931.1:n.2287+3442dup
XM_011542058.1:c.1621+3442dup	XP_011540360.1:n.1621+3442dup
XM_006710867.2:c.2287+3442dup	XP_006710930.1:n.2287+3442dup
NM_003243.5:c.2287+3442dup MANE Select	NP_003234.2:n.2287+3442dup
NM_001195683.2:c.2284+3442dup	NP_001182612.1:n.2284+3442dup
NR_036634.2:n.2771+3442dup