Canonical Allele Identifier: CA633167487

Gene: TGFB1

Linked Data

• dbSNP Id: rs1395367812
• gnomAD v2: 19-41854031-GTCTC-G
• gnomAD v3: 19-41348126-GTCTC-G
• gnomAD v4: 19-41348126-GTCTC-G
• MyVariant Identifiers: chr19:g.41854032_41854035del (hg19) ; chr19:g.41348127_41348130del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348127_41348130del , CM000681.2:g.41348127_41348130del	GRCh38
NC_000019.9:g.41854032_41854035del , CM000681.1:g.41854032_41854035del	GRCh37
NC_000019.8:g.46545872_46545875del	NCBI36
NG_013364.1:g.10797_10800del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.516+165_516+168del MANE Select	ENSP00000221930.4:n.516+165_516+168del
ENST00000600196.2:c.516+165_516+168del	ENSP00000504008.1:n.516+165_516+168del
ENST00000677934.1:c.516+165_516+168del	ENSP00000504769.1:n.516+165_516+168del
ENST00000221930.5:c.516+165_516+168del	ENSP00000221930.4:n.516+165_516+168del
ENST00000597453.1:n.47+165_47+168del
NM_000660.5:c.516+165_516+168del	NP_000651.3:n.516+165_516+168del
XM_011527242.1:c.516+165_516+168del	XP_011525544.1:n.516+165_516+168del
NM_000660.6:c.516+165_516+168del	NP_000651.3:n.516+165_516+168del
XM_011527242.2:c.516+165_516+168del	XP_011525544.1:n.516+165_516+168del
NM_000660.7:c.516+165_516+168del MANE Select	NP_000651.3:n.516+165_516+168del