Canonical Allele Identifier: CA2648717406
Gene: ITLN1 HGNC NCBI
gnomAD v4:
chr1-160882269-CAAG-C
Joint Max Group AF 0.00000444 (SAS)
Exomes Max Group AF 0.00000474 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160882272_160882274del , CM000663.2:g.160882272_160882274del GRCh38
NC_000001.10:g.160852062_160852064del , CM000663.1:g.160852062_160852064del GRCh37
NC_000001.9:g.159118686_159118688del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.158-68_158-66del MANE Select ENSP00000323587.3:n.158-68_158-66del
ENST00000326245.3:c.158-68_158-66del ENSP00000323587.3:n.158-68_158-66del
ENST00000464077.1:n.24_26del
NM_017625.2:c.158-68_158-66del NP_060095.2:n.158-68_158-66del
NM_017625.3:c.158-68_158-66del MANE Select NP_060095.2:n.158-68_158-66del
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