Canonical Allele Identifier: CA2336426217

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 1914948
• ClinVar RCV Id: RCV002597938
• dbSNP Id: rs281865483

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353013_41353015dup , CM000681.2:g.41353013_41353015dup	GRCh38
NC_000019.9:g.41858918_41858920dup , CM000681.1:g.41858918_41858920dup	GRCh37
NC_000019.8:g.46550758_46550760dup	NCBI36
NG_013091.1:g.16165_16167dup
NG_013364.1:g.5918_5920dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.36_38dup (TGFB1) MANE Select	ENSP00000221930.4:p.Leu13_Pro14insLeu
ENST00000600196.2:c.36_38dup (TGFB1)	ENSP00000504008.1:p.Leu13_Pro14insLeu
ENST00000677934.1:c.36_38dup (TGFB1)	ENSP00000504769.1:p.Leu13_Pro14insLeu
ENST00000221930.5:c.36_38dup (TGFB1)	ENSP00000221930.4:p.Leu13_Pro14insLeu
ENST00000539627.5:c.-30+1811_-30+1813dup (TMEM91)	ENSP00000441900.1:n.-30+1811_-30+1813dup
ENST00000604424.1:n.350+1811_350+1813dup
NM_000660.5:c.36_38dup (TGFB1)	NP_000651.3:p.Leu13_Pro14insLeu
XM_011527242.1:c.36_38dup (TGFB1)	XP_011525544.1:p.Leu13_Pro14insLeu
NM_000660.6:c.36_38dup (TGFB1)	NP_000651.3:p.Leu13_Pro14insLeu
XM_011527242.2:c.36_38dup (TGFB1)	XP_011525544.1:p.Leu13_Pro14insLeu
NM_000660.7:c.36_38dup (TGFB1) MANE Select	NP_000651.3:p.Leu13_Pro14insLeu