Canonical Allele Identifier: CA2585296391

Gene: TGFB1

Linked Data

• gnomAD v4: 19-41342182-CTTGCAGTGTGTTATCCCTGCTGTCACAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41342183_41342210del , CM000681.2:g.41342183_41342210del	GRCh38
NC_000019.9:g.41848088_41848115del , CM000681.1:g.41848088_41848115del	GRCh37
NC_000019.8:g.46539928_46539955del	NCBI36
NG_013364.1:g.16717_16744del

Transcript Alleles

HGVS	Amino-acid change
ENST00000221930.6:c.672_699del MANE Select	ENSP00000221930.4:p.Cys225TrpfsTer20
ENST00000600196.2:c.672_699del	ENSP00000504008.1:p.Cys225TrpfsTer18
ENST00000677934.1:c.634+2537_634+2564del	ENSP00000504769.1:n.634+2537_634+2564del
ENST00000221930.5:c.672_699del	ENSP00000221930.4:p.Cys225TrpfsTer20
ENST00000597453.1:n.203_230del
ENST00000600196.1:n.132_159del
NM_000660.5:c.672_699del	NP_000651.3:p.Cys225TrpfsTer20
XM_011527242.1:c.672_699del	XP_011525544.1:p.Cys225TrpfsTer21
NM_000660.6:c.672_699del	NP_000651.3:p.Cys225TrpfsTer20
XM_011527242.2:c.672_699del	XP_011525544.1:p.Cys225TrpfsTer21
NM_000660.7:c.672_699del MANE Select	NP_000651.3:p.Cys225TrpfsTer20