Canonical Allele Identifier: CA2681211340
Gene: TTLL2 HGNC NCBI

Linked Data

gnomAD v4: 6-167341140-CTGATTTACTTAAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.167341143_167341155del , CM000668.2:g.167341143_167341155del GRCh38
NC_000006.11:g.167754631_167754643del , CM000668.1:g.167754631_167754643del GRCh37
NC_000006.10:g.167674621_167674633del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239587.10:c.1243_1255del MANE Select ENSP00000239587.5:p.Ile415ValfsTer2
ENST00000649884.1:c.1024_1036del ENSP00000497040.1:p.Ile342ValfsTer2
ENST00000239587.9:c.1243_1255del ENSP00000239587.5:p.Ile415ValfsTer2
ENST00000515138.1:c.1243_1255del ENSP00000424130.1:p.Ile415ValfsTer2
NM_031949.4:c.1243_1255del NP_114155.4:p.Ile415ValfsTer2
XM_006715572.2:c.1024_1036del XP_006715635.1:p.Ile342ValfsTer2
XM_006715572.4:c.1024_1036del XP_006715635.1:p.Ile342ValfsTer2
NM_031949.5:c.1243_1255del MANE Select NP_114155.4:p.Ile415ValfsTer2
Search 100 bp 5'
Search 100 bp 3'