Canonical Allele Identifier: CA2814427016

Gene: TGFB1 TMEM91

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352717_41352723del , CM000681.2:g.41352717_41352723del	GRCh38
NC_000019.9:g.41858622_41858628del , CM000681.1:g.41858622_41858628del	GRCh37
NC_000019.8:g.46550462_46550468del	NCBI36
NG_013091.1:g.16452_16458del
NG_013364.1:g.6205_6211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.323_329del (TGFB1) MANE Select	ENSP00000221930.4:p.Val108AlafsTer3
ENST00000600196.2:c.323_329del (TGFB1)	ENSP00000504008.1:p.Val108AlafsTer3
ENST00000677934.1:c.323_329del (TGFB1)	ENSP00000504769.1:p.Val108AlafsTer3
ENST00000221930.5:c.323_329del (TGFB1)	ENSP00000221930.4:p.Val108AlafsTer3
ENST00000539627.5:c.-30+1515_-30+1521del (TMEM91)	ENSP00000441900.1:n.-30+1515_-30+1521del
ENST00000604424.1:n.350+1515_350+1521del
NM_000660.5:c.323_329del (TGFB1)	NP_000651.3:p.Val108AlafsTer3
XM_011527242.1:c.323_329del (TGFB1)	XP_011525544.1:p.Val108AlafsTer3
NM_000660.6:c.323_329del (TGFB1)	NP_000651.3:p.Val108AlafsTer3
XM_011527242.2:c.323_329del (TGFB1)	XP_011525544.1:p.Val108AlafsTer3
NM_000660.7:c.323_329del (TGFB1) MANE Select	NP_000651.3:p.Val108AlafsTer3