Canonical Allele Identifier: CA2585297189

Gene: TGFB1 TMEM91

Linked Data

• gnomAD v4: 19-41353019-A-AGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353021_41353022insCGC , CM000681.2:g.41353021_41353022insCGC	GRCh38
NC_000019.9:g.41858926_41858927insCGC , CM000681.1:g.41858926_41858927insCGC	GRCh37
NC_000019.8:g.46550766_46550767insCGC	NCBI36
NG_013091.1:g.16154_16155insGGC
NG_013364.1:g.5907_5908insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.25_26insGGC (TGFB1) MANE Select	ENSP00000221930.4:p.Leu8_Leu9insArg
ENST00000600196.2:c.25_26insGGC (TGFB1)	ENSP00000504008.1:p.Leu8_Leu9insArg
ENST00000677934.1:c.25_26insGGC (TGFB1)	ENSP00000504769.1:p.Leu8_Leu9insArg
ENST00000221930.5:c.25_26insGGC (TGFB1)	ENSP00000221930.4:p.Leu8_Leu9insArg
ENST00000539627.5:c.-30+1819_-30+1820insCGC (TMEM91)	ENSP00000441900.1:n.-30+1819_-30+1820insCGC
ENST00000604424.1:n.350+1819_350+1820insCGC
NM_000660.5:c.25_26insGGC (TGFB1)	NP_000651.3:p.Leu8_Leu9insArg
XM_011527242.1:c.25_26insGGC (TGFB1)	XP_011525544.1:p.Leu8_Leu9insArg
NM_000660.6:c.25_26insGGC (TGFB1)	NP_000651.3:p.Leu8_Leu9insArg
XM_011527242.2:c.25_26insGGC (TGFB1)	XP_011525544.1:p.Leu8_Leu9insArg
NM_000660.7:c.25_26insGGC (TGFB1) MANE Select	NP_000651.3:p.Leu8_Leu9insArg