Canonical Allele Identifier: CA2576793338

Gene: TGFB1 TMEM91

Linked Data

• gnomAD v4: 19-41352996-A-ACAGCAGCGGTAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353006_41353017dup , CM000681.2:g.41353006_41353017dup	GRCh38
NC_000019.9:g.41858911_41858922dup , CM000681.1:g.41858911_41858922dup	GRCh37
NC_000019.8:g.46550751_46550762dup	NCBI36
NG_013091.1:g.16166_16177dup
NG_013364.1:g.5919_5930dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.37_48dup (TGFB1) MANE Select	ENSP00000221930.4:p.Leu16_Trp17insLeuProLeuLeu
ENST00000600196.2:c.37_48dup (TGFB1)	ENSP00000504008.1:p.Leu16_Trp17insLeuProLeuLeu
ENST00000677934.1:c.37_48dup (TGFB1)	ENSP00000504769.1:p.Leu16_Trp17insLeuProLeuLeu
ENST00000221930.5:c.37_48dup (TGFB1)	ENSP00000221930.4:p.Leu16_Trp17insLeuProLeuLeu
ENST00000539627.5:c.-30+1804_-30+1815dup (TMEM91)	ENSP00000441900.1:n.-30+1804_-30+1815dup
ENST00000604424.1:n.350+1804_350+1815dup
NM_000660.5:c.37_48dup (TGFB1)	NP_000651.3:p.Leu16_Trp17insLeuProLeuLeu
XM_011527242.1:c.37_48dup (TGFB1)	XP_011525544.1:p.Leu16_Trp17insLeuProLeuLeu
NM_000660.6:c.37_48dup (TGFB1)	NP_000651.3:p.Leu16_Trp17insLeuProLeuLeu
XM_011527242.2:c.37_48dup (TGFB1)	XP_011525544.1:p.Leu16_Trp17insLeuProLeuLeu
NM_000660.7:c.37_48dup (TGFB1) MANE Select	NP_000651.3:p.Leu16_Trp17insLeuProLeuLeu