Canonical Allele Identifier: CA2697556603

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 2747739
• ClinVar RCV Id: RCV003570604

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353015_41353016delinsAA , CM000681.2:g.41353015_41353016delinsAA	GRCh38
NC_000019.9:g.41858920_41858921delinsAA , CM000681.1:g.41858920_41858921delinsAA	GRCh37
NC_000019.8:g.46550760_46550761delinsAA	NCBI36
NG_013091.1:g.16158_16159delinsTT
NG_013364.1:g.5911_5912delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.29_30delinsTT (TGFB1) MANE Select	ENSP00000221930.4:p.Pro10Leu
ENST00000600196.2:c.29_30delinsTT (TGFB1)	ENSP00000504008.1:p.Pro10Leu
ENST00000677934.1:c.29_30delinsTT (TGFB1)	ENSP00000504769.1:p.Pro10Leu
ENST00000221930.5:c.29_30delinsTT (TGFB1)	ENSP00000221930.4:p.Pro10Leu
ENST00000539627.5:c.-30+1813_-30+1814delinsAA (TMEM91)	ENSP00000441900.1:n.-30+1813_-30+1814delinsAA
ENST00000604424.1:n.350+1813_350+1814delinsAA
NM_000660.5:c.29_30delinsTT (TGFB1)	NP_000651.3:p.Pro10Leu
XM_011527242.1:c.29_30delinsTT (TGFB1)	XP_011525544.1:p.Pro10Leu
NM_000660.6:c.29_30delinsTT (TGFB1)	NP_000651.3:p.Pro10Leu
XM_011527242.2:c.29_30delinsTT (TGFB1)	XP_011525544.1:p.Pro10Leu
NM_000660.7:c.29_30delinsTT (TGFB1) MANE Select	NP_000651.3:p.Pro10Leu