Canonical Allele Identifier: CA563254381
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1161117123
gnomAD v2: 5-135392787-ACTGTC-A
gnomAD v3: 5-136057098-ACTGTC-A
gnomAD v4: 5-136057098-ACTGTC-A
MyVariant Identifiers: chr5:g.135392788_135392792del (hg19) chr5:g.136057099_136057103del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136057099_136057103del , CM000667.2:g.136057099_136057103del GRCh38
NC_000005.9:g.135392788_135392792del , CM000667.1:g.135392788_135392792del GRCh37
NC_000005.8:g.135420687_135420691del NCBI36
NG_012646.1:g.33205_33209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+304_1678+308del MANE Select ENSP00000416330.2:n.1678+304_1678+308del
ENST00000442011.6:c.1678+304_1678+308del ENSP00000416330.2:n.1678+304_1678+308del
ENST00000506699.5:n.2195+304_2195+308del
ENST00000507018.5:c.1656+304_1656+308del
ENST00000509485.5:c.675+304_675+308del
ENST00000514242.5:n.449+304_449+308del
ENST00000514554.5:c.830+304_830+308del
NM_000358.2:c.1678+304_1678+308del NP_000349.1:n.1678+304_1678+308del
NM_000358.3:c.1678+304_1678+308del MANE Select NP_000349.1:n.1678+304_1678+308del
Search 100 bp 5'
Search 100 bp 3'