Canonical Allele Identifier: CA633470217

Gene: TGFB1 TMEM91

Linked Data

• dbSNP Id: rs1314905627
• gnomAD v2: 19-41858909-G-GGTA
• gnomAD v4: 19-41353004-G-GGTA
• MyVariant Identifiers: chr19:g.41858909_41858910insGTA (hg19) ; chr19:g.41353004_41353005insGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353006_41353008dup , CM000681.2:g.41353006_41353008dup	GRCh38
NC_000019.9:g.41858911_41858913dup , CM000681.1:g.41858911_41858913dup	GRCh37
NC_000019.8:g.46550751_46550753dup	NCBI36
NG_013091.1:g.16167_16169dup
NG_013364.1:g.5920_5922dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.38_40dup (TGFB1) MANE Select	ENSP00000221930.4:p.Leu13_Pro14insLeu
ENST00000600196.2:c.38_40dup (TGFB1)	ENSP00000504008.1:p.Leu13_Pro14insLeu
ENST00000677934.1:c.38_40dup (TGFB1)	ENSP00000504769.1:p.Leu13_Pro14insLeu
ENST00000221930.5:c.38_40dup (TGFB1)	ENSP00000221930.4:p.Leu13_Pro14insLeu
ENST00000539627.5:c.-30+1804_-30+1806dup (TMEM91)	ENSP00000441900.1:n.-30+1804_-30+1806dup
ENST00000604424.1:n.350+1804_350+1806dup
NM_000660.5:c.38_40dup (TGFB1)	NP_000651.3:p.Leu13_Pro14insLeu
XM_011527242.1:c.38_40dup (TGFB1)	XP_011525544.1:p.Leu13_Pro14insLeu
NM_000660.6:c.38_40dup (TGFB1)	NP_000651.3:p.Leu13_Pro14insLeu
XM_011527242.2:c.38_40dup (TGFB1)	XP_011525544.1:p.Leu13_Pro14insLeu
NM_000660.7:c.38_40dup (TGFB1) MANE Select	NP_000651.3:p.Leu13_Pro14insLeu