Canonical Allele Identifier: CA740317627
Gene: TGFBR3 HGNC NCBI

Linked Data

dbSNP Id: rs1398838619
gnomAD v3: 1-91705234-T-TA
gnomAD v4: 1-91705234-T-TA
MyVariant Identifiers: chr1:g.92170791_92170792insA (hg19) chr1:g.91705234_91705235insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.91705234_91705235insA , CM000663.2:g.91705234_91705235insA GRCh38
NC_000001.10:g.92170791_92170792insA , CM000663.1:g.92170791_92170792insA GRCh37
NC_000001.9:g.91943379_91943380insA NCBI36
NG_027757.1:g.205768_205769insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000212355.9:c.2287+3428_2287+3429insT MANE Select ENSP00000212355.4:n.2287+3428_2287+3429insT
ENST00000212355.8:c.2287+3428_2287+3429insT ENSP00000212355.4:n.2287+3428_2287+3429insT
ENST00000370399.6:c.2284+3428_2284+3429insT ENSP00000359426.2:n.2284+3428_2284+3429insT
ENST00000465892.6:c.2284+3428_2284+3429insT ENSP00000432638.1:n.2284+3428_2284+3429insT
ENST00000470600.1:n.242+3428_242+3429insT
ENST00000525962.5:c.2287+3428_2287+3429insT ENSP00000436127.1:n.2287+3428_2287+3429insT
ENST00000532540.5:c.*2234+3428_*2234+3429insT ENSP00000434994.1:n.*2234+3428_*2234+3429insT
ENST00000533089.5:c.*2005+3428_*2005+3429insT ENSP00000433477.1:n.*2005+3428_*2005+3429insT
NM_001195683.1:c.2284+3428_2284+3429insT NP_001182612.1:n.2284+3428_2284+3429insT
NM_001195684.1:c.2284+3428_2284+3429insT NP_001182613.1:n.2284+3428_2284+3429insT
NM_003243.4:c.2287+3428_2287+3429insT NP_003234.2:n.2287+3428_2287+3429insT
NR_036634.1:n.2899+3428_2899+3429insT
XM_006710867.1:c.2287+3428_2287+3429insT XP_006710930.1:n.2287+3428_2287+3429insT
XM_006710868.1:c.2287+3428_2287+3429insT XP_006710931.1:n.2287+3428_2287+3429insT
XM_011542058.1:c.1621+3428_1621+3429insT XP_011540360.1:n.1621+3428_1621+3429insT
XM_006710867.2:c.2287+3428_2287+3429insT XP_006710930.1:n.2287+3428_2287+3429insT
NM_003243.5:c.2287+3428_2287+3429insT MANE Select NP_003234.2:n.2287+3428_2287+3429insT
NM_001195683.2:c.2284+3428_2284+3429insT NP_001182612.1:n.2284+3428_2284+3429insT
NR_036634.2:n.2771+3428_2771+3429insT
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