Canonical Allele Identifier: CA2585296809

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41348170-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348175_41348177del , CM000681.2:g.41348175_41348177del	GRCh38
NC_000019.9:g.41854080_41854082del , CM000681.1:g.41854080_41854082del	GRCh37
NC_000019.8:g.46545920_46545922del	NCBI36
NG_013364.1:g.10754_10756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.516+122_516+124del MANE Select	ENSP00000221930.4:n.516+122_516+124del
ENST00000600196.2:c.516+122_516+124del	ENSP00000504008.1:n.516+122_516+124del
ENST00000677934.1:c.516+122_516+124del	ENSP00000504769.1:n.516+122_516+124del
ENST00000221930.5:c.516+122_516+124del	ENSP00000221930.4:n.516+122_516+124del
ENST00000597453.1:n.47+122_47+124del
NM_000660.5:c.516+122_516+124del	NP_000651.3:n.516+122_516+124del
XM_011527242.1:c.516+122_516+124del	XP_011525544.1:n.516+122_516+124del
NM_000660.6:c.516+122_516+124del	NP_000651.3:n.516+122_516+124del
XM_011527242.2:c.516+122_516+124del	XP_011525544.1:n.516+122_516+124del
NM_000660.7:c.516+122_516+124del MANE Select	NP_000651.3:n.516+122_516+124del