Canonical Allele Identifier: CA740317537

Gene: TGFBR3

Linked Data

• dbSNP Id: rs1452340202
• MyVariant Identifiers: chr1:g.92170776_92170780del (hg19) ; chr1:g.91705219_91705223del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91705225_91705229del , CM000663.2:g.91705225_91705229del	GRCh38
NC_000001.10:g.92170782_92170786del , CM000663.1:g.92170782_92170786del	GRCh37
NC_000001.9:g.91943370_91943374del	NCBI36
NG_027757.1:g.205780_205784del

Transcript Alleles

HGVS	Amino-acid change
ENST00000212355.9:c.2287+3440_2287+3444del MANE Select	ENSP00000212355.4:n.2287+3440_2287+3444de...
ENST00000212355.8:c.2287+3440_2287+3444del	ENSP00000212355.4:n.2287+3440_2287+3444de...
ENST00000370399.6:c.2284+3440_2284+3444del	ENSP00000359426.2:n.2284+3440_2284+3444de...
ENST00000465892.6:c.2284+3440_2284+3444del	ENSP00000432638.1:n.2284+3440_2284+3444de...
ENST00000470600.1:n.242+3440_242+3444del
ENST00000525962.5:c.2287+3440_2287+3444del	ENSP00000436127.1:n.2287+3440_2287+3444de...
ENST00000532540.5:c.*2234+3440_*2234+3444del	ENSP00000434994.1:n.*2234+3440_*2234+3444...
ENST00000533089.5:c.*2005+3440_*2005+3444del	ENSP00000433477.1:n.*2005+3440_*2005+3444...
NM_001195683.1:c.2284+3440_2284+3444del	NP_001182612.1:n.2284+3440_2284+3444del
NM_001195684.1:c.2284+3440_2284+3444del	NP_001182613.1:n.2284+3440_2284+3444del
NM_003243.4:c.2287+3440_2287+3444del	NP_003234.2:n.2287+3440_2287+3444del
NR_036634.1:n.2899+3440_2899+3444del
XM_006710867.1:c.2287+3440_2287+3444del	XP_006710930.1:n.2287+3440_2287+3444del
XM_006710868.1:c.2287+3440_2287+3444del	XP_006710931.1:n.2287+3440_2287+3444del
XM_011542058.1:c.1621+3440_1621+3444del	XP_011540360.1:n.1621+3440_1621+3444del
XM_006710867.2:c.2287+3440_2287+3444del	XP_006710930.1:n.2287+3440_2287+3444del
NM_003243.5:c.2287+3440_2287+3444del MANE Select	NP_003234.2:n.2287+3440_2287+3444del
NM_001195683.2:c.2284+3440_2284+3444del	NP_001182612.1:n.2284+3440_2284+3444del
NR_036634.2:n.2771+3440_2771+3444del