Canonical Allele Identifier: CA2336421223

Gene: TGFB1

Linked Data

• dbSNP Id: rs2038068052
• gnomAD v4: 19-41342388-CTCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342390_41342394del , CM000681.2:g.41342390_41342394del	GRCh38
NC_000019.9:g.41848295_41848299del , CM000681.1:g.41848295_41848299del	GRCh37
NC_000019.8:g.46540135_46540139del	NCBI36
NG_013364.1:g.16534_16538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.635-146_635-142del MANE Select	ENSP00000221930.4:n.635-146_635-142del
ENST00000600196.2:c.635-146_635-142del	ENSP00000504008.1:n.635-146_635-142del
ENST00000677934.1:c.634+2354_634+2358del	ENSP00000504769.1:n.634+2354_634+2358del
ENST00000221930.5:c.635-146_635-142del	ENSP00000221930.4:n.635-146_635-142del
ENST00000597453.1:n.166-146_166-142del
ENST00000600196.1:n.95-146_95-142del
NM_000660.5:c.635-146_635-142del	NP_000651.3:n.635-146_635-142del
XM_011527242.1:c.635-146_635-142del	XP_011525544.1:n.635-146_635-142del
NM_000660.6:c.635-146_635-142del	NP_000651.3:n.635-146_635-142del
XM_011527242.2:c.635-146_635-142del	XP_011525544.1:n.635-146_635-142del
NM_000660.7:c.635-146_635-142del MANE Select	NP_000651.3:n.635-146_635-142del