Canonical Allele Identifier: CA633167737

Gene: TGFB1 TMEM91

Linked Data

• dbSNP Id: rs1216389805
• gnomAD v2: 19-41859123-GGTGTCTCA-G
• MyVariant Identifiers: chr19:g.41859124_41859131del (hg19) ; chr19:g.41353219_41353226del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353221_41353228del , CM000681.2:g.41353221_41353228del	GRCh38
NC_000019.9:g.41859126_41859133del , CM000681.1:g.41859126_41859133del	GRCh37
NC_000019.8:g.46550966_46550973del	NCBI36
NG_013091.1:g.15948_15955del
NG_013364.1:g.5701_5708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.-182_-175del (TGFB1) MANE Select	ENSP00000221930.4:n.-182_-175del
ENST00000221930.5:c.-182_-175del (TGFB1)	ENSP00000221930.4:n.-182_-175del
ENST00000539627.5:c.-30+2019_-30+2026del (TMEM91)	ENSP00000441900.1:n.-30+2019_-30+2026del
ENST00000604424.1:n.350+2019_350+2026del
NM_000660.5:c.-182_-175del (TGFB1)	NP_000651.3:n.-182_-175del
XM_011527242.1:c.-182_-175del (TGFB1)	XP_011525544.1:n.-182_-175del
NM_000660.6:c.-182_-175del (TGFB1)	NP_000651.3:n.-182_-175del
XM_011527242.2:c.-182_-175del (TGFB1)	XP_011525544.1:n.-182_-175del
NM_000660.7:c.-182_-175del (TGFB1) MANE Select	NP_000651.3:n.-182_-175del