Canonical Allele Identifier: CA995960791

Gene: TGFB1

Linked Data

• gnomAD v3: 19-41347998-GGC-G
• gnomAD v4: 19-41347998-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348001_41348002del , CM000681.2:g.41348001_41348002del	GRCh38
NC_000019.9:g.41853906_41853907del , CM000681.1:g.41853906_41853907del	GRCh37
NC_000019.8:g.46545746_46545747del	NCBI36
NG_013364.1:g.10927_10928del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.516+295_516+296del MANE Select	ENSP00000221930.4:n.516+295_516+296del
ENST00000600196.2:c.516+295_516+296del	ENSP00000504008.1:n.516+295_516+296del
ENST00000677934.1:c.516+295_516+296del	ENSP00000504769.1:n.516+295_516+296del
ENST00000221930.5:c.516+295_516+296del	ENSP00000221930.4:n.516+295_516+296del
ENST00000597453.1:n.47+295_47+296del
NM_000660.5:c.516+295_516+296del	NP_000651.3:n.516+295_516+296del
XM_011527242.1:c.516+295_516+296del	XP_011525544.1:n.516+295_516+296del
NM_000660.6:c.516+295_516+296del	NP_000651.3:n.516+295_516+296del
XM_011527242.2:c.516+295_516+296del	XP_011525544.1:n.516+295_516+296del
NM_000660.7:c.516+295_516+296del MANE Select	NP_000651.3:n.516+295_516+296del