Canonical Allele Identifier: CA2585297135

Gene: TGFB1 TMEM91

Linked Data

• gnomAD v4: 19-41352995-C-CACAGCAGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352996_41353004dup , CM000681.2:g.41352996_41353004dup	GRCh38
NC_000019.9:g.41858901_41858909dup , CM000681.1:g.41858901_41858909dup	GRCh37
NC_000019.8:g.46550741_46550749dup	NCBI36
NG_013091.1:g.16170_16178dup
NG_013364.1:g.5923_5931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.41_49dup (TGFB1) MANE Select	ENSP00000221930.4:p.Leu16_Trp17insSerLeuLeu
ENST00000600196.2:c.41_49dup (TGFB1)	ENSP00000504008.1:p.Leu16_Trp17insSerLeuLeu
ENST00000677934.1:c.41_49dup (TGFB1)	ENSP00000504769.1:p.Leu16_Trp17insSerLeuLeu
ENST00000221930.5:c.41_49dup (TGFB1)	ENSP00000221930.4:p.Leu16_Trp17insSerLeuLeu
ENST00000539627.5:c.-30+1794_-30+1802dup (TMEM91)	ENSP00000441900.1:n.-30+1794_-30+1802dup
ENST00000604424.1:n.350+1794_350+1802dup
NM_000660.5:c.41_49dup (TGFB1)	NP_000651.3:p.Leu16_Trp17insSerLeuLeu
XM_011527242.1:c.41_49dup (TGFB1)	XP_011525544.1:p.Leu16_Trp17insSerLeuLeu
NM_000660.6:c.41_49dup (TGFB1)	NP_000651.3:p.Leu16_Trp17insSerLeuLeu
XM_011527242.2:c.41_49dup (TGFB1)	XP_011525544.1:p.Leu16_Trp17insSerLeuLeu
NM_000660.7:c.41_49dup (TGFB1) MANE Select	NP_000651.3:p.Leu16_Trp17insSerLeuLeu