Canonical Allele Identifier: CA9460183

Gene: TGFB1 TMEM91

Linked Data

• ClinVar Variation Id: 2958514
• ClinVar RCV Id: RCV003816737
• dbSNP Id: rs755927938
• ExAC: 19:41858915 AGCAGCG / A
• gnomAD v2: 19-41858915-AGCAGCG-A
• gnomAD v3: 19-41353010-AGCAGCG-A
• gnomAD v4: 19-41353010-AGCAGCG-A
• MyVariant Identifiers: chr19:g.41858916_41858921del (hg19) ; chr19:g.41353011_41353016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41353016_41353021del , CM000681.2:g.41353016_41353021del	GRCh38
NC_000019.9:g.41858921_41858926del , CM000681.1:g.41858921_41858926del	GRCh37
NC_000019.8:g.46550761_46550766del	NCBI36
NG_013091.1:g.16158_16163del
NG_013364.1:g.5911_5916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221930.6:c.29_34del (TGFB1) MANE Select	ENSP00000221930.4:p.Pro10_Leu11del
ENST00000600196.2:c.29_34del (TGFB1)	ENSP00000504008.1:p.Pro10_Leu11del
ENST00000677934.1:c.29_34del (TGFB1)	ENSP00000504769.1:p.Pro10_Leu11del
ENST00000221930.5:c.29_34del (TGFB1)	ENSP00000221930.4:p.Pro10_Leu11del
ENST00000539627.5:c.-30+1814_-30+1819del (TMEM91)	ENSP00000441900.1:n.-30+1814_-30+1819del
ENST00000604424.1:n.350+1814_350+1819del
NM_000660.5:c.29_34del (TGFB1)	NP_000651.3:p.Pro10_Leu11del
XM_011527242.1:c.29_34del (TGFB1)	XP_011525544.1:p.Pro10_Leu11del
NM_000660.6:c.29_34del (TGFB1)	NP_000651.3:p.Pro10_Leu11del
XM_011527242.2:c.29_34del (TGFB1)	XP_011525544.1:p.Pro10_Leu11del
NM_000660.7:c.29_34del (TGFB1) MANE Select	NP_000651.3:p.Pro10_Leu11del