Canonical Allele Identifier: CA995964031

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 1393985
• ClinVar RCV Id: RCV001927284
• dbSNP Id: rs1286308480
• gnomAD v3: 19-41353007-A-AGCAGCAGCG
• gnomAD v4: 19-41353007-A-AGCAGCAGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353016_41353024dup , CM000681.2:g.41353016_41353024dup	GRCh38
NC_000019.9:g.41858921_41858929dup , CM000681.1:g.41858921_41858929dup	GRCh37
NC_000019.8:g.46550761_46550769dup	NCBI36
NG_013091.1:g.16158_16166dup
NG_013364.1:g.5911_5919dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.29_37dup (TGFB1) MANE Select	ENSP00000221930.4:p.Leu12_Leu13insProLeuLeu
ENST00000600196.2:c.29_37dup (TGFB1)	ENSP00000504008.1:p.Leu12_Leu13insProLeuLeu
ENST00000677934.1:c.29_37dup (TGFB1)	ENSP00000504769.1:p.Leu12_Leu13insProLeuLeu
ENST00000221930.5:c.29_37dup (TGFB1)	ENSP00000221930.4:p.Leu12_Leu13insProLeuLeu
ENST00000539627.5:c.-30+1814_-30+1822dup (TMEM91)	ENSP00000441900.1:n.-30+1814_-30+1822dup
ENST00000604424.1:n.350+1814_350+1822dup
NM_000660.5:c.29_37dup (TGFB1)	NP_000651.3:p.Leu12_Leu13insProLeuLeu
XM_011527242.1:c.29_37dup (TGFB1)	XP_011525544.1:p.Leu12_Leu13insProLeuLeu
NM_000660.6:c.29_37dup (TGFB1)	NP_000651.3:p.Leu12_Leu13insProLeuLeu
XM_011527242.2:c.29_37dup (TGFB1)	XP_011525544.1:p.Leu12_Leu13insProLeuLeu
NM_000660.7:c.29_37dup (TGFB1) MANE Select	NP_000651.3:p.Leu12_Leu13insProLeuLeu