Canonical Allele Identifier: CA995955424

Gene: TGFB1

Linked Data

• dbSNP Id: rs1648612287
• gnomAD v3: 19-41342115-AAC-A
• gnomAD v4: 19-41342115-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342124_41342125del , CM000681.2:g.41342124_41342125del	GRCh38
NC_000019.9:g.41848029_41848030del , CM000681.1:g.41848029_41848030del	GRCh37
NC_000019.8:g.46539869_46539870del	NCBI36
NG_013364.1:g.16810_16811del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.712+53_712+54del MANE Select	ENSP00000221930.4:n.712+53_712+54del
ENST00000600196.2:c.712+53_712+54del	ENSP00000504008.1:n.712+53_712+54del
ENST00000677934.1:c.634+2630_634+2631del	ENSP00000504769.1:n.634+2630_634+2631del
ENST00000221930.5:c.712+53_712+54del	ENSP00000221930.4:n.712+53_712+54del
ENST00000597453.1:n.296_297del
ENST00000600196.1:n.172+53_172+54del
NM_000660.5:c.712+53_712+54del	NP_000651.3:n.712+53_712+54del
XM_011527242.1:c.712+53_712+54del	XP_011525544.1:n.712+53_712+54del
NM_000660.6:c.712+53_712+54del	NP_000651.3:n.712+53_712+54del
XM_011527242.2:c.712+53_712+54del	XP_011525544.1:n.712+53_712+54del
NM_000660.7:c.712+53_712+54del MANE Select	NP_000651.3:n.712+53_712+54del