Canonical Allele Identifier: CA524342051

Gene: TGFBR3

Linked Data

• dbSNP Id: rs1671758896
• gnomAD v2: 1-92170799-TGAGACAGA-T
• gnomAD v3: 1-91705242-TGAGACAGA-T
• gnomAD v4: 1-91705242-TGAGACAGA-T
• MyVariant Identifiers: chr1:g.92170801_92170808del (hg19) ; chr1:g.91705244_91705251del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.91705244_91705251del , CM000663.2:g.91705244_91705251del	GRCh38
NC_000001.10:g.92170801_92170808del , CM000663.1:g.92170801_92170808del	GRCh37
NC_000001.9:g.91943389_91943396del	NCBI36
NG_027757.1:g.205753_205760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000212355.9:c.2287+3413_2287+3420del MANE Select	ENSP00000212355.4:n.2287+3413_2287+3420del
ENST00000212355.8:c.2287+3413_2287+3420del	ENSP00000212355.4:n.2287+3413_2287+3420del
ENST00000370399.6:c.2284+3413_2284+3420del	ENSP00000359426.2:n.2284+3413_2284+3420del
ENST00000465892.6:c.2284+3413_2284+3420del	ENSP00000432638.1:n.2284+3413_2284+3420del
ENST00000470600.1:n.242+3413_242+3420del
ENST00000525962.5:c.2287+3413_2287+3420del	ENSP00000436127.1:n.2287+3413_2287+3420del
ENST00000532540.5:c.*2234+3413_*2234+3420del	ENSP00000434994.1:n.*2234+3413_*2234+3420del
ENST00000533089.5:c.*2005+3413_*2005+3420del	ENSP00000433477.1:n.*2005+3413_*2005+3420del
NM_001195683.1:c.2284+3413_2284+3420del	NP_001182612.1:n.2284+3413_2284+3420del
NM_001195684.1:c.2284+3413_2284+3420del	NP_001182613.1:n.2284+3413_2284+3420del
NM_003243.4:c.2287+3413_2287+3420del	NP_003234.2:n.2287+3413_2287+3420del
NR_036634.1:n.2899+3413_2899+3420del
XM_006710867.1:c.2287+3413_2287+3420del	XP_006710930.1:n.2287+3413_2287+3420del
XM_006710868.1:c.2287+3413_2287+3420del	XP_006710931.1:n.2287+3413_2287+3420del
XM_011542058.1:c.1621+3413_1621+3420del	XP_011540360.1:n.1621+3413_1621+3420del
XM_006710867.2:c.2287+3413_2287+3420del	XP_006710930.1:n.2287+3413_2287+3420del
NM_003243.5:c.2287+3413_2287+3420del MANE Select	NP_003234.2:n.2287+3413_2287+3420del
NM_001195683.2:c.2284+3413_2284+3420del	NP_001182612.1:n.2284+3413_2284+3420del
NR_036634.2:n.2771+3413_2771+3420del