Canonical Allele Identifier: CA2585296716

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41348143-AAAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348144_41348147del , CM000681.2:g.41348144_41348147del	GRCh38
NC_000019.9:g.41854049_41854052del , CM000681.1:g.41854049_41854052del	GRCh37
NC_000019.8:g.46545889_46545892del	NCBI36
NG_013364.1:g.10780_10783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.516+148_516+151del MANE Select	ENSP00000221930.4:n.516+148_516+151del
ENST00000600196.2:c.516+148_516+151del	ENSP00000504008.1:n.516+148_516+151del
ENST00000677934.1:c.516+148_516+151del	ENSP00000504769.1:n.516+148_516+151del
ENST00000221930.5:c.516+148_516+151del	ENSP00000221930.4:n.516+148_516+151del
ENST00000597453.1:n.47+148_47+151del
NM_000660.5:c.516+148_516+151del	NP_000651.3:n.516+148_516+151del
XM_011527242.1:c.516+148_516+151del	XP_011525544.1:n.516+148_516+151del
NM_000660.6:c.516+148_516+151del	NP_000651.3:n.516+148_516+151del
XM_011527242.2:c.516+148_516+151del	XP_011525544.1:n.516+148_516+151del
NM_000660.7:c.516+148_516+151del MANE Select	NP_000651.3:n.516+148_516+151del