Canonical Allele Identifier: CA308518981

Gene: TGFB1 TMEM91

Linked Data

• dbSNP Id: rs281865481
• gnomAD v4: 19-41353214-CG-C
• MyVariant Identifiers: chr19:g.41859120del (hg19) ; chr19:g.41353215del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353219del , CM000681.2:g.41353219del	GRCh38
NC_000019.9:g.41859124del , CM000681.1:g.41859124del	GRCh37
NC_000019.8:g.46550964del	NCBI36
NG_013091.1:g.15959del
NG_013364.1:g.5712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.-171del (TGFB1) MANE Select	ENSP00000221930.4:n.-171del
ENST00000221930.5:c.-171del (TGFB1)	ENSP00000221930.4:n.-171del
ENST00000539627.5:c.-30+2017del (TMEM91)	ENSP00000441900.1:n.-30+2017del
ENST00000604424.1:n.350+2017del
NM_000660.5:c.-171del (TGFB1)	NP_000651.3:n.-171del
XM_011527242.1:c.-171del (TGFB1)	XP_011525544.1:n.-171del
NM_000660.6:c.-171del (TGFB1)	NP_000651.3:n.-171del
XM_011527242.2:c.-171del (TGFB1)	XP_011525544.1:n.-171del
NM_000660.7:c.-171del (TGFB1) MANE Select	NP_000651.3:n.-171del