Canonical Allele Identifier: CA308518950

Gene: TGFB1 TMEM91

Linked Data

• dbSNP Id: rs1008378738
• gnomAD v3: 19-41353184-AG-A
• gnomAD v4: 19-41353184-AG-A
• MyVariant Identifiers: chr19:g.41859090del (hg19) ; chr19:g.41353185del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353187del , CM000681.2:g.41353187del	GRCh38
NC_000019.9:g.41859092del , CM000681.1:g.41859092del	GRCh37
NC_000019.8:g.46550932del	NCBI36
NG_013091.1:g.15989del
NG_013364.1:g.5742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.-141del (TGFB1) MANE Select	ENSP00000221930.4:n.-141del
ENST00000221930.5:c.-141del (TGFB1)	ENSP00000221930.4:n.-141del
ENST00000539627.5:c.-30+1985del (TMEM91)	ENSP00000441900.1:n.-30+1985del
ENST00000604424.1:n.350+1985del
NM_000660.5:c.-141del (TGFB1)	NP_000651.3:n.-141del
XM_011527242.1:c.-141del (TGFB1)	XP_011525544.1:n.-141del
NM_000660.6:c.-141del (TGFB1)	NP_000651.3:n.-141del
XM_011527242.2:c.-141del (TGFB1)	XP_011525544.1:n.-141del
NM_000660.7:c.-141del (TGFB1) MANE Select	NP_000651.3:n.-141del