Canonical Allele Identifier: CA2675393767
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046674-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046676del , CM000667.2:g.136046676del GRCh38
NC_000005.9:g.135382365del , CM000667.1:g.135382365del GRCh37
NC_000005.8:g.135410264del NCBI36
NG_012646.1:g.22782del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.460-175del MANE Select ENSP00000416330.2:n.460-175del
ENST00000442011.6:c.460-175del ENSP00000416330.2:n.460-175del
ENST00000506699.5:n.705del
ENST00000507018.5:c.437+120del
ENST00000515433.1:n.932del
NM_000358.2:c.460-175del NP_000349.1:n.460-175del
NM_000358.3:c.460-175del MANE Select NP_000349.1:n.460-175del
Search 100 bp 5'
Search 100 bp 3'