Canonical Allele Identifier: CA882328042

Gene: TGFB1 TMEM91

Linked Data

• dbSNP Id: rs1314635979
• gnomAD v4: 19-41353212-AC-A
• MyVariant Identifiers: chr19:g.41859118del (hg19) ; chr19:g.41353213del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353214del , CM000681.2:g.41353214del	GRCh38
NC_000019.9:g.41859119del , CM000681.1:g.41859119del	GRCh37
NC_000019.8:g.46550959del	NCBI36
NG_013091.1:g.15961del
NG_013364.1:g.5714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.-169del (TGFB1) MANE Select	ENSP00000221930.4:n.-169del
ENST00000221930.5:c.-169del (TGFB1)	ENSP00000221930.4:n.-169del
ENST00000539627.5:c.-30+2012del (TMEM91)	ENSP00000441900.1:n.-30+2012del
ENST00000604424.1:n.350+2012del
NM_000660.5:c.-169del (TGFB1)	NP_000651.3:n.-169del
XM_011527242.1:c.-169del (TGFB1)	XP_011525544.1:n.-169del
NM_000660.6:c.-169del (TGFB1)	NP_000651.3:n.-169del
XM_011527242.2:c.-169del (TGFB1)	XP_011525544.1:n.-169del
NM_000660.7:c.-169del (TGFB1) MANE Select	NP_000651.3:n.-169del