Canonical Allele Identifier: CA633167717

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 1375990
• ClinVar RCV Id: RCV001885663
• dbSNP Id: rs1406326686
• gnomAD v2: 19-41858924-A-AGCAGCC
• gnomAD v4: 19-41353019-A-AGCAGCC
• MyVariant Identifiers: chr19:g.41858924_41858925insGCAGCC (hg19) ; chr19:g.41353019_41353020insGCAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353026_41353031dup , CM000681.2:g.41353026_41353031dup	GRCh38
NC_000019.9:g.41858931_41858936dup , CM000681.1:g.41858931_41858936dup	GRCh37
NC_000019.8:g.46550771_46550776dup	NCBI36
NG_013091.1:g.16149_16154dup
NG_013364.1:g.5902_5907dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.20_25dup (TGFB1) MANE Select	ENSP00000221930.4:p.Leu8_Leu9insArgLeu
ENST00000600196.2:c.20_25dup (TGFB1)	ENSP00000504008.1:p.Leu8_Leu9insArgLeu
ENST00000677934.1:c.20_25dup (TGFB1)	ENSP00000504769.1:p.Leu8_Leu9insArgLeu
ENST00000221930.5:c.20_25dup (TGFB1)	ENSP00000221930.4:p.Leu8_Leu9insArgLeu
ENST00000539627.5:c.-30+1824_-30+1829dup (TMEM91)	ENSP00000441900.1:n.-30+1824_-30+1829dup
ENST00000604424.1:n.350+1824_350+1829dup
NM_000660.5:c.20_25dup (TGFB1)	NP_000651.3:p.Leu8_Leu9insArgLeu
XM_011527242.1:c.20_25dup (TGFB1)	XP_011525544.1:p.Leu8_Leu9insArgLeu
NM_000660.6:c.20_25dup (TGFB1)	NP_000651.3:p.Leu8_Leu9insArgLeu
XM_011527242.2:c.20_25dup (TGFB1)	XP_011525544.1:p.Leu8_Leu9insArgLeu
NM_000660.7:c.20_25dup (TGFB1) MANE Select	NP_000651.3:p.Leu8_Leu9insArgLeu