Canonical Allele Identifier: CA995960956

Gene: TGFB1

Linked Data

• gnomAD v3: 19-41348123-ACTGTCTC-A
• gnomAD v4: 19-41348123-ACTGTCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348124_41348130del , CM000681.2:g.41348124_41348130del	GRCh38
NC_000019.9:g.41854029_41854035del , CM000681.1:g.41854029_41854035del	GRCh37
NC_000019.8:g.46545869_46545875del	NCBI36
NG_013364.1:g.10797_10803del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.516+165_516+171del MANE Select	ENSP00000221930.4:n.516+165_516+171del
ENST00000600196.2:c.516+165_516+171del	ENSP00000504008.1:n.516+165_516+171del
ENST00000677934.1:c.516+165_516+171del	ENSP00000504769.1:n.516+165_516+171del
ENST00000221930.5:c.516+165_516+171del	ENSP00000221930.4:n.516+165_516+171del
ENST00000597453.1:n.47+165_47+171del
NM_000660.5:c.516+165_516+171del	NP_000651.3:n.516+165_516+171del
XM_011527242.1:c.516+165_516+171del	XP_011525544.1:n.516+165_516+171del
NM_000660.6:c.516+165_516+171del	NP_000651.3:n.516+165_516+171del
XM_011527242.2:c.516+165_516+171del	XP_011525544.1:n.516+165_516+171del
NM_000660.7:c.516+165_516+171del MANE Select	NP_000651.3:n.516+165_516+171del