Canonical Allele Identifier: CA995960920

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038137604
• gnomAD v3: 19-41348108-GCAA-G
• gnomAD v4: 19-41348108-GCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41348111_41348113del , CM000681.2:g.41348111_41348113del	GRCh38
NC_000019.9:g.41854016_41854018del , CM000681.1:g.41854016_41854018del	GRCh37
NC_000019.8:g.46545856_46545858del	NCBI36
NG_013364.1:g.10816_10818del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.516+184_516+186del MANE Select	ENSP00000221930.4:n.516+184_516+186del
ENST00000600196.2:c.516+184_516+186del	ENSP00000504008.1:n.516+184_516+186del
ENST00000677934.1:c.516+184_516+186del	ENSP00000504769.1:n.516+184_516+186del
ENST00000221930.5:c.516+184_516+186del	ENSP00000221930.4:n.516+184_516+186del
ENST00000597453.1:n.47+184_47+186del
NM_000660.5:c.516+184_516+186del	NP_000651.3:n.516+184_516+186del
XM_011527242.1:c.516+184_516+186del	XP_011525544.1:n.516+184_516+186del
NM_000660.6:c.516+184_516+186del	NP_000651.3:n.516+184_516+186del
XM_011527242.2:c.516+184_516+186del	XP_011525544.1:n.516+184_516+186del
NM_000660.7:c.516+184_516+186del MANE Select	NP_000651.3:n.516+184_516+186del