Canonical Allele Identifier: CA308518746
Gene: TGFB1 HGNC NCBI
TMEM91 HGNC NCBI

Linked Data

dbSNP Id: rs921941989

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41353006_41353017del , CM000681.2:g.41353006_41353017del GRCh38
NC_000019.9:g.41858911_41858922del , CM000681.1:g.41858911_41858922del GRCh37
NC_000019.8:g.46550751_46550762del NCBI36
NG_013091.1:g.16166_16177del
NG_013364.1:g.5919_5930del

Transcript Alleles

HGVS Amino-acid Change
ENST00000221930.6:c.37_48del (TGFB1) MANE Select ENSP00000221930.4:p.Leu13_Leu16del
ENST00000600196.2:c.37_48del (TGFB1) ENSP00000504008.1:p.Leu13_Leu16del
ENST00000677934.1:c.37_48del (TGFB1) ENSP00000504769.1:p.Leu13_Leu16del
ENST00000221930.5:c.37_48del (TGFB1) ENSP00000221930.4:p.Leu13_Leu16del
ENST00000539627.5:c.-30+1804_-30+1815del (TMEM91) ENSP00000441900.1:n.-30+1804_-30+1815del
ENST00000604424.1:n.350+1804_350+1815del
NM_000660.5:c.37_48del (TGFB1) NP_000651.3:p.Leu13_Leu16del
XM_011527242.1:c.37_48del (TGFB1) XP_011525544.1:p.Leu13_Leu16del
NM_000660.6:c.37_48del (TGFB1) NP_000651.3:p.Leu13_Leu16del
XM_011527242.2:c.37_48del (TGFB1) XP_011525544.1:p.Leu13_Leu16del
NM_000660.7:c.37_48del (TGFB1) MANE Select NP_000651.3:p.Leu13_Leu16del