Canonical Allele Identifier: CA633167492

Gene: TGFB1

Linked Data

• dbSNP Id: rs11347492
• gnomAD v2: 19-41854035-CAAAA-C
• gnomAD v3: 19-41348130-CAAAA-C
• gnomAD v4: 19-41348130-CAAAA-C
• MyVariant Identifiers: chr19:g.41854036_41854039del (hg19) ; chr19:g.41348131_41348134del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348142_41348145del , CM000681.2:g.41348142_41348145del	GRCh38
NC_000019.9:g.41854047_41854050del , CM000681.1:g.41854047_41854050del	GRCh37
NC_000019.8:g.46545887_46545890del	NCBI36
NG_013364.1:g.10793_10796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.516+161_516+164del MANE Select	ENSP00000221930.4:n.516+161_516+164del
ENST00000600196.2:c.516+161_516+164del	ENSP00000504008.1:n.516+161_516+164del
ENST00000677934.1:c.516+161_516+164del	ENSP00000504769.1:n.516+161_516+164del
ENST00000221930.5:c.516+161_516+164del	ENSP00000221930.4:n.516+161_516+164del
ENST00000597453.1:n.47+161_47+164del
NM_000660.5:c.516+161_516+164del	NP_000651.3:n.516+161_516+164del
XM_011527242.1:c.516+161_516+164del	XP_011525544.1:n.516+161_516+164del
NM_000660.6:c.516+161_516+164del	NP_000651.3:n.516+161_516+164del
XM_011527242.2:c.516+161_516+164del	XP_011525544.1:n.516+161_516+164del
NM_000660.7:c.516+161_516+164del MANE Select	NP_000651.3:n.516+161_516+164del