Canonical Allele Identifier: CA421605021
Gene: ITLN1 HGNC NCBI

Linked Data

dbSNP Id: rs56380748
gnomAD v2: 1-160851594-GAAAAAA-G
gnomAD v3: 1-160881804-GAAAAAA-G
gnomAD v4: 1-160881804-GAAAAAA-G
MyVariant Identifiers: chr1:g.160851597_160851602del (hg19) chr1:g.160851595_160851600del (hg19) chr1:g.160881807_160881812del (hg38) chr1:g.160881805_160881810del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160881820_160881825del , CM000663.2:g.160881820_160881825del GRCh38
NC_000001.10:g.160851610_160851615del , CM000663.1:g.160851610_160851615del GRCh37
NC_000001.9:g.159118234_159118239del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326245.4:c.405+147_405+152del MANE Select ENSP00000323587.3:n.405+147_405+152del
ENST00000326245.3:c.405+147_405+152del ENSP00000323587.3:n.405+147_405+152del
ENST00000464077.1:n.339+147_339+152del
NM_017625.2:c.405+147_405+152del NP_060095.2:n.405+147_405+152del
NM_017625.3:c.405+147_405+152del MANE Select NP_060095.2:n.405+147_405+152del
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