Canonical Allele Identifier: CA1180471373
Gene: TGFBR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.91705225_91705234delinsCTTTTTTTTT , CM000663.2:g.91705225_91705234delinsCTTTTTTTTT GRCh38
NC_000001.10:g.92170782_92170791delinsCTTTTTTTTT , CM000663.1:g.92170782_92170791delinsCTTTTTTTTT GRCh37
NC_000001.9:g.91943370_91943379delinsCTTTTTTTTT NCBI36
NG_027757.1:g.205769_205778delinsAAAAAAAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000212355.9:c.2287+3429_2287+3438delinsAAAAAAAAAG MANE Select ENSP00000212355.4:n.2287+3429_2287+3438delinsAAAAAAAAAG
ENST00000212355.8:c.2287+3429_2287+3438delinsAAAAAAAAAG ENSP00000212355.4:n.2287+3429_2287+3438delinsAAAAAAAAAG
ENST00000370399.6:c.2284+3429_2284+3438delinsAAAAAAAAAG ENSP00000359426.2:n.2284+3429_2284+3438delinsAAAAAAAAAG
ENST00000465892.6:c.2284+3429_2284+3438delinsAAAAAAAAAG ENSP00000432638.1:n.2284+3429_2284+3438delinsAAAAAAAAAG
ENST00000470600.1:n.242+3429_242+3438delinsAAAAAAAAAG
ENST00000525962.5:c.2287+3429_2287+3438delinsAAAAAAAAAG ENSP00000436127.1:n.2287+3429_2287+3438delinsAAAAAAAAAG
ENST00000532540.5:c.*2234+3429_*2234+3438delinsAAAAAAAAAG ENSP00000434994.1:n.*2234+3429_*2234+3438delinsAAAAAAAAAG
ENST00000533089.5:c.*2005+3429_*2005+3438delinsAAAAAAAAAG ENSP00000433477.1:n.*2005+3429_*2005+3438delinsAAAAAAAAAG
NM_001195683.1:c.2284+3429_2284+3438delinsAAAAAAAAAG NP_001182612.1:n.2284+3429_2284+3438delinsAAAAAAAAAG
NM_001195684.1:c.2284+3429_2284+3438delinsAAAAAAAAAG NP_001182613.1:n.2284+3429_2284+3438delinsAAAAAAAAAG
NM_003243.4:c.2287+3429_2287+3438delinsAAAAAAAAAG NP_003234.2:n.2287+3429_2287+3438delinsAAAAAAAAAG
NR_036634.1:n.2899+3429_2899+3438delinsAAAAAAAAAG
XM_006710867.1:c.2287+3429_2287+3438delinsAAAAAAAAAG XP_006710930.1:n.2287+3429_2287+3438delinsAAAAAAAAAG
XM_006710868.1:c.2287+3429_2287+3438delinsAAAAAAAAAG XP_006710931.1:n.2287+3429_2287+3438delinsAAAAAAAAAG
XM_011542058.1:c.1621+3429_1621+3438delinsAAAAAAAAAG XP_011540360.1:n.1621+3429_1621+3438delinsAAAAAAAAAG
XM_006710867.2:c.2287+3429_2287+3438delinsAAAAAAAAAG XP_006710930.1:n.2287+3429_2287+3438delinsAAAAAAAAAG
NM_003243.5:c.2287+3429_2287+3438delinsAAAAAAAAAG MANE Select NP_003234.2:n.2287+3429_2287+3438delinsAAAAAAAAAG
NM_001195683.2:c.2284+3429_2284+3438delinsAAAAAAAAAG NP_001182612.1:n.2284+3429_2284+3438delinsAAAAAAAAAG
NR_036634.2:n.2771+3429_2771+3438delinsAAAAAAAAAG