Canonical Allele Identifier: CA633470218

Gene: TGFB1 TMEM91

Linked Data

• dbSNP Id: rs1215545015
• gnomAD v2: 19-41858911-TAGCAGCAGCGGC-T
• gnomAD v3: 19-41353006-TAGCAGCAGCGGC-T
• gnomAD v4: 19-41353006-TAGCAGCAGCGGC-T
• MyVariant Identifiers: chr19:g.41858912_41858923del (hg19) ; chr19:g.41353007_41353018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353013_41353024del , CM000681.2:g.41353013_41353024del	GRCh38
NC_000019.9:g.41858918_41858929del , CM000681.1:g.41858918_41858929del	GRCh37
NC_000019.8:g.46550758_46550769del	NCBI36
NG_013091.1:g.16156_16167del
NG_013364.1:g.5909_5920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.27_38del (TGFB1) MANE Select	ENSP00000221930.4:p.Pro10_Leu13del
ENST00000600196.2:c.27_38del (TGFB1)	ENSP00000504008.1:p.Pro10_Leu13del
ENST00000677934.1:c.27_38del (TGFB1)	ENSP00000504769.1:p.Pro10_Leu13del
ENST00000221930.5:c.27_38del (TGFB1)	ENSP00000221930.4:p.Pro10_Leu13del
ENST00000539627.5:c.-30+1811_-30+1822del (TMEM91)	ENSP00000441900.1:n.-30+1811_-30+1822del
ENST00000604424.1:n.350+1811_350+1822del
NM_000660.5:c.27_38del (TGFB1)	NP_000651.3:p.Pro10_Leu13del
XM_011527242.1:c.27_38del (TGFB1)	XP_011525544.1:p.Pro10_Leu13del
NM_000660.6:c.27_38del (TGFB1)	NP_000651.3:p.Pro10_Leu13del
XM_011527242.2:c.27_38del (TGFB1)	XP_011525544.1:p.Pro10_Leu13del
NM_000660.7:c.27_38del (TGFB1) MANE Select	NP_000651.3:p.Pro10_Leu13del