Canonical Allele Identifier: CA2336426140
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41352862_41352867delinsGCTGGC , CM000681.2:g.41352862_41352867delinsGCTGGC GRCh38
NC_000019.9:g.41858767_41858772delinsGCTGGC , CM000681.1:g.41858767_41858772delinsGCTGGC GRCh37
NC_000019.8:g.46550607_46550612delinsGCTGGC NCBI36
NG_013091.1:g.16307_16312delinsGCCAGC
NG_013364.1:g.6060_6065delinsGCCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.178_183delinsGCCAGC (TGFB1) MANE Select ENSP00000221930.4:p.Ala60=
ENST00000600196.2:c.178_183delinsGCCAGC (TGFB1) ENSP00000504008.1:p.Ala60=
ENST00000677934.1:c.178_183delinsGCCAGC (TGFB1) ENSP00000504769.1:p.Ala60=
ENST00000221930.5:c.178_183delinsGCCAGC (TGFB1) ENSP00000221930.4:p.Ala60=
ENST00000539627.5:c.-30+1660_-30+1665delinsGCTGGC (TMEM91) ENSP00000441900.1:n.-30+1660_-30+1665delinsGCTGGC
ENST00000604424.1:n.350+1660_350+1665delinsGCTGGC
NM_000660.5:c.178_183delinsGCCAGC (TGFB1) NP_000651.3:p.Ala60=
XM_011527242.1:c.178_183delinsGCCAGC (TGFB1) XP_011525544.1:p.Ala60=
NM_000660.6:c.178_183delinsGCCAGC (TGFB1) NP_000651.3:p.Ala60=
XM_011527242.2:c.178_183delinsGCCAGC (TGFB1) XP_011525544.1:p.Ala60=
NM_000660.7:c.178_183delinsGCCAGC (TGFB1) MANE Select NP_000651.3:p.Ala60=