Canonical Allele Identifier: CA1180471332
Gene: TGFBR3 HGNC NCBI

Linked Data

dbSNP Id: rs1671751246

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.91705131_91705132del , CM000663.2:g.91705131_91705132del GRCh38
NC_000001.10:g.92170688_92170689del , CM000663.1:g.92170688_92170689del GRCh37
NC_000001.9:g.91943276_91943277del NCBI36
NG_027757.1:g.205872_205873del

Transcript Alleles

HGVS Amino-acid Change
ENST00000212355.9:c.2287+3532_2287+3533del MANE Select ENSP00000212355.4:n.2287+3532_2287+3533del
ENST00000212355.8:c.2287+3532_2287+3533del ENSP00000212355.4:n.2287+3532_2287+3533del
ENST00000370399.6:c.2284+3532_2284+3533del ENSP00000359426.2:n.2284+3532_2284+3533del
ENST00000465892.6:c.2284+3532_2284+3533del ENSP00000432638.1:n.2284+3532_2284+3533del
ENST00000470600.1:n.242+3532_242+3533del
ENST00000525962.5:c.2287+3532_2287+3533del ENSP00000436127.1:n.2287+3532_2287+3533del
ENST00000532540.5:c.*2234+3532_*2234+3533del ENSP00000434994.1:n.*2234+3532_*2234+3533del
ENST00000533089.5:c.*2005+3532_*2005+3533del ENSP00000433477.1:n.*2005+3532_*2005+3533del
NM_001195683.1:c.2284+3532_2284+3533del NP_001182612.1:n.2284+3532_2284+3533del
NM_001195684.1:c.2284+3532_2284+3533del NP_001182613.1:n.2284+3532_2284+3533del
NM_003243.4:c.2287+3532_2287+3533del NP_003234.2:n.2287+3532_2287+3533del
NR_036634.1:n.2899+3532_2899+3533del
XM_006710867.1:c.2287+3532_2287+3533del XP_006710930.1:n.2287+3532_2287+3533del
XM_006710868.1:c.2287+3532_2287+3533del XP_006710931.1:n.2287+3532_2287+3533del
XM_011542058.1:c.1621+3532_1621+3533del XP_011540360.1:n.1621+3532_1621+3533del
XM_006710867.2:c.2287+3532_2287+3533del XP_006710930.1:n.2287+3532_2287+3533del
NM_003243.5:c.2287+3532_2287+3533del MANE Select NP_003234.2:n.2287+3532_2287+3533del
NM_001195683.2:c.2284+3532_2284+3533del NP_001182612.1:n.2284+3532_2284+3533del
NR_036634.2:n.2771+3532_2771+3533del