Canonical Allele Identifier: CA2585296876

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41348240-A-ACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348242_41348244dup , CM000681.2:g.41348242_41348244dup	GRCh38
NC_000019.9:g.41854147_41854149dup , CM000681.1:g.41854147_41854149dup	GRCh37
NC_000019.8:g.46545987_46545989dup	NCBI36
NG_013364.1:g.10684_10686dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.516+52_516+54dup MANE Select	ENSP00000221930.4:n.516+52_516+54dup
ENST00000600196.2:c.516+52_516+54dup	ENSP00000504008.1:n.516+52_516+54dup
ENST00000677934.1:c.516+52_516+54dup	ENSP00000504769.1:n.516+52_516+54dup
ENST00000221930.5:c.516+52_516+54dup	ENSP00000221930.4:n.516+52_516+54dup
ENST00000597453.1:n.47+52_47+54dup
NM_000660.5:c.516+52_516+54dup	NP_000651.3:n.516+52_516+54dup
XM_011527242.1:c.516+52_516+54dup	XP_011525544.1:n.516+52_516+54dup
NM_000660.6:c.516+52_516+54dup	NP_000651.3:n.516+52_516+54dup
XM_011527242.2:c.516+52_516+54dup	XP_011525544.1:n.516+52_516+54dup
NM_000660.7:c.516+52_516+54dup MANE Select	NP_000651.3:n.516+52_516+54dup