Canonical Allele Identifier: CA2585297133

Gene: TGFB1 TMEM91

Linked Data

• gnomAD v4: 19-41352973-GCCAGGCGTCAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352978_41352990del , CM000681.2:g.41352978_41352990del	GRCh38
NC_000019.9:g.41858883_41858895del , CM000681.1:g.41858883_41858895del	GRCh37
NC_000019.8:g.46550723_46550735del	NCBI36
NG_013091.1:g.16188_16200del
NG_013364.1:g.5941_5953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.59_71del (TGFB1) MANE Select	ENSP00000221930.4:p.Val20AlafsTer18
ENST00000600196.2:c.59_71del (TGFB1)	ENSP00000504008.1:p.Val20AlafsTer18
ENST00000677934.1:c.59_71del (TGFB1)	ENSP00000504769.1:p.Val20AlafsTer18
ENST00000221930.5:c.59_71del (TGFB1)	ENSP00000221930.4:p.Val20AlafsTer18
ENST00000539627.5:c.-30+1776_-30+1788del (TMEM91)	ENSP00000441900.1:n.-30+1776_-30+1788del
ENST00000604424.1:n.350+1776_350+1788del
NM_000660.5:c.59_71del (TGFB1)	NP_000651.3:p.Val20AlafsTer18
XM_011527242.1:c.59_71del (TGFB1)	XP_011525544.1:p.Val20AlafsTer18
NM_000660.6:c.59_71del (TGFB1)	NP_000651.3:p.Val20AlafsTer18
XM_011527242.2:c.59_71del (TGFB1)	XP_011525544.1:p.Val20AlafsTer18
NM_000660.7:c.59_71del (TGFB1) MANE Select	NP_000651.3:p.Val20AlafsTer18