Canonical Allele Identifier: CA2517187770
Gene: ITLN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881731G>A , CM000663.2:g.160881731G>A GRCh38
NC_000001.10:g.160851521G>A , CM000663.1:g.160851521G>A GRCh37
NC_000001.9:g.159118145G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.405+226C>T MANE Select ENSP00000323587.3:n.405+226C>T
ENST00000326245.3:c.405+226C>T ENSP00000323587.3:n.405+226C>T
ENST00000464077.1:n.339+226C>T
NM_017625.2:c.405+226C>T NP_060095.2:n.405+226C>T
NM_017625.3:c.405+226C>T MANE Select NP_060095.2:n.405+226C>T
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