Canonical Allele Identifier: CA9460128

Gene: TGFB1 TMEM91

Linked Data

• dbSNP Id: rs781033888
• ExAC: 19:41858559 GC / G
• gnomAD v2: 19-41858559-GC-G
• gnomAD v4: 19-41352654-GC-G
• MyVariant Identifiers: chr19:g.41858560del (hg19) ; chr19:g.41352656del (hg38) ; chr19:g.41352655del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41352660del , CM000681.2:g.41352660del	GRCh38
NC_000019.9:g.41858565del , CM000681.1:g.41858565del	GRCh37
NC_000019.8:g.46550405del	NCBI36
NG_013091.1:g.16519del
NG_013364.1:g.6272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.355+35del (TGFB1) MANE Select	ENSP00000221930.4:n.355+35del
ENST00000600196.2:c.355+35del (TGFB1)	ENSP00000504008.1:n.355+35del
ENST00000677934.1:c.355+35del (TGFB1)	ENSP00000504769.1:n.355+35del
ENST00000221930.5:c.355+35del (TGFB1)	ENSP00000221930.4:n.355+35del
ENST00000539627.5:c.-30+1458del (TMEM91)	ENSP00000441900.1:n.-30+1458del
ENST00000604424.1:n.350+1458del
NM_000660.5:c.355+35del (TGFB1)	NP_000651.3:n.355+35del
XM_011527242.1:c.355+35del (TGFB1)	XP_011525544.1:n.355+35del
NM_000660.6:c.355+35del (TGFB1)	NP_000651.3:n.355+35del
XM_011527242.2:c.355+35del (TGFB1)	XP_011525544.1:n.355+35del
NM_000660.7:c.355+35del (TGFB1) MANE Select	NP_000651.3:n.355+35del