Canonical Allele Identifier: CA3419985
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs767388381
ExAC: 5:135382001 CCTT / C
gnomAD v2: 5-135382001-CCTT-C
gnomAD v4: 5-136046312-CCTT-C
MyVariant Identifiers: chr5:g.135382002_135382004del (hg19) chr5:g.136046313_136046315del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046315_136046317del , CM000667.2:g.136046315_136046317del GRCh38
NC_000005.9:g.135382004_135382006del , CM000667.1:g.135382004_135382006del GRCh37
NC_000005.8:g.135409903_135409905del NCBI36
NG_012646.1:g.22421_22423del

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.299-20_299-18del MANE Select ENSP00000416330.2:n.299-20_299-18del
ENST00000442011.6:c.299-20_299-18del ENSP00000416330.2:n.299-20_299-18del
ENST00000504185.5:n.456-20_456-18del
ENST00000506699.5:n.364-20_364-18del
ENST00000507018.5:c.216-20_216-18del
ENST00000515433.1:n.571_573del
NM_000358.2:c.299-20_299-18del NP_000349.1:n.299-20_299-18del
NM_000358.3:c.299-20_299-18del MANE Select NP_000349.1:n.299-20_299-18del
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