Canonical Allele Identifier: CA2586031835
Gene: TICAM1 HGNC NCBI

Linked Data

gnomAD v4: 19-4816748-GTTCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816754_4816757del , CM000681.2:g.4816754_4816757del GRCh38
NC_000019.9:g.4816766_4816769del , CM000681.1:g.4816766_4816769del GRCh37
NC_000019.8:g.4767766_4767769del NCBI36
NG_031998.1:g.19991_19994del , LRG_358:g.19991_19994del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1626_1629del MANE Select ENSP00000248244.4:p.Lys542AsnfsTer24
ENST00000248244.5:c.1626_1629del ENSP00000248244.4:p.Lys542AsnfsTer24
ENST00000621756.1:c.1209_1212del ENSP00000479467.1:p.Lys403AsnfsTer24
NM_182919.3:c.1626_1629del , LRG_358t1:c.1626_1629del NP_891549.1:p.Lys542AsnfsTer24
NM_001385678.1:c.1584_1587del NP_001372607.1:p.Lys528AsnfsTer24
NM_001385679.1:c.1491_1494del NP_001372608.1:p.Lys497AsnfsTer24
NM_001385680.1:c.984_987del NP_001372609.1:p.Lys328AsnfsTer24
NM_182919.4:c.1626_1629del MANE Select NP_891549.1:p.Lys542AsnfsTer24
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