Canonical Allele Identifier: CA2675393771
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046678-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046684del , CM000667.2:g.136046684del GRCh38
NC_000005.9:g.135382373del , CM000667.1:g.135382373del GRCh37
NC_000005.8:g.135410272del NCBI36
NG_012646.1:g.22790del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.460-167del MANE Select ENSP00000416330.2:n.460-167del
ENST00000442011.6:c.460-167del ENSP00000416330.2:n.460-167del
ENST00000506699.5:n.713del
ENST00000507018.5:c.437+128del
ENST00000515433.1:n.940del
NM_000358.2:c.460-167del NP_000349.1:n.460-167del
NM_000358.3:c.460-167del MANE Select NP_000349.1:n.460-167del
Search 100 bp 5'
Search 100 bp 3'