Canonical Allele Identifier: CA2336426205
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41352996_41353008delinsACAGCAGCGGTAG , CM000681.2:g.41352996_41353008delinsACAGCAGCGGTAG GRCh38
NC_000019.9:g.41858901_41858913delinsACAGCAGCGGTAG , CM000681.1:g.41858901_41858913delinsACAGCAGCGGTAG GRCh37
NC_000019.8:g.46550741_46550753delinsACAGCAGCGGTAG NCBI36
NG_013091.1:g.16166_16178delinsCTACCGCTGCTGT
NG_013364.1:g.5919_5931delinsCTACCGCTGCTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.37_49delinsCTACCGCTGCTGT (TGFB1) MANE Select ENSP00000221930.4:p.Leu13=
ENST00000600196.2:c.37_49delinsCTACCGCTGCTGT (TGFB1) ENSP00000504008.1:p.Leu13=
ENST00000677934.1:c.37_49delinsCTACCGCTGCTGT (TGFB1) ENSP00000504769.1:p.Leu13=
ENST00000221930.5:c.37_49delinsCTACCGCTGCTGT (TGFB1) ENSP00000221930.4:p.Leu13=
ENST00000539627.5:c.-30+1794_-30+1806delinsACAGCAGCGGTAG (TMEM91) ENSP00000441900.1:n.-30+1794_-30+1806delinsACAGCAGCGGTAG
ENST00000604424.1:n.350+1794_350+1806delinsACAGCAGCGGTAG
NM_000660.5:c.37_49delinsCTACCGCTGCTGT (TGFB1) NP_000651.3:p.Leu13=
XM_011527242.1:c.37_49delinsCTACCGCTGCTGT (TGFB1) XP_011525544.1:p.Leu13=
NM_000660.6:c.37_49delinsCTACCGCTGCTGT (TGFB1) NP_000651.3:p.Leu13=
XM_011527242.2:c.37_49delinsCTACCGCTGCTGT (TGFB1) XP_011525544.1:p.Leu13=
NM_000660.7:c.37_49delinsCTACCGCTGCTGT (TGFB1) MANE Select NP_000651.3:p.Leu13=