Canonical Allele Identifier: CA2140828513
Gene: SIX6 HGNC NCBI
C14orf39 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60509717_60509718delinsCT , CM000676.2:g.60509717_60509718delinsCT GRCh38
NC_000014.8:g.60976435_60976436delinsCT , CM000676.1:g.60976435_60976436delinsCT GRCh37
NC_000014.7:g.60046188_60046189delinsCT NCBI36
NG_008203.1:g.5498_5499delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000327720.6:c.319_320delinsCT (SIX6) MANE Select ENSP00000328596.5:p.Leu107=
ENST00000327720.5:c.319_320delinsCT (SIX6) ENSP00000328596.5:p.Leu107=
ENST00000556799.1:c.-144+5677_-144+5678delinsAG (C14orf39) ENSP00000451441.1:n.-144+5677_-144+5678delinsAG
NM_007374.2:c.319_320delinsCT (SIX6) NP_031400.2:p.Leu107=
NM_007374.3:c.319_320delinsCT (SIX6) MANE Select NP_031400.2:p.Leu107=
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