Canonical Allele Identifier: CA2580097280

Gene: TGFB1

Linked Data

• ClinVar Variation Id: 1803553
• ClinVar RCV Id: RCV002467223

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41341952_41341957delinsATGGTGAAGCA , CM000681.2:g.41341952_41341957delinsATGGTGAAGCA	GRCh38
NC_000019.9:g.41847857_41847862delinsATGGTGAAGCA , CM000681.1:g.41847857_41847862delinsATGGTGAAGCA	GRCh37
NC_000019.8:g.46539697_46539702delinsATGGTGAAGCA	NCBI36
NG_013364.1:g.16970_16975delinsTGCTTCACCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.786_791delinsTGCTTCACCAT MANE Select	ENSP00000221930.4:p.Thr263AlafsTer?
ENST00000600196.2:c.712+213_712+218delinsTGCTTCACCAT	ENSP00000504008.1:n.712+213_712+218delinsTGCTTCACCAT
ENST00000677934.1:c.634+2790_634+2795delinsTGCTTCACCAT	ENSP00000504769.1:n.634+2790_634+2795delinsTGCTTCACCAT
ENST00000221930.5:c.786_791delinsTGCTTCACCAT	ENSP00000221930.4:p.Thr263AlafsTer?
ENST00000598758.5:c.74_79delinsTGCTTCACCAT
ENST00000600196.1:n.172+213_172+218delinsTGCTTCACCAT
NM_000660.5:c.786_791delinsTGCTTCACCAT	NP_000651.3:p.Thr263AlafsTer?
XM_011527242.1:c.789_794delinsTGCTTCACCAT	XP_011525544.1:p.Thr264AlafsTer?
NM_000660.6:c.786_791delinsTGCTTCACCAT	NP_000651.3:p.Thr263AlafsTer?
XM_011527242.2:c.789_794delinsTGCTTCACCAT	XP_011525544.1:p.Thr264AlafsTer?
NM_000660.7:c.786_791delinsTGCTTCACCAT MANE Select	NP_000651.3:p.Thr263AlafsTer?