Canonical Allele Identifier: CA2585856563
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766579-C-CGG
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766583_45766584dup , CM000681.2:g.45766583_45766584dup GRCh38
NC_000019.9:g.46269841_46269842dup , CM000681.1:g.46269841_46269842dup GRCh37
NC_000019.8:g.50961681_50961682dup NCBI36
NG_012745.1:g.7659_7660dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1378_1379dup MANE Select ENSP00000316842.4:p.Gly461ArgfsTer7
ENST00000317578.6:c.1378_1379dup ENSP00000316842.4:p.Gly461ArgfsTer7
ENST00000560160.1:c.587-470_587-469dup
ENST00000560168.1:c.*566_*567dup ENSP00000453189.2:n.*566_*567dup
ENST00000622857.1:c.16-619_16-618dup ENSP00000481365.1:n.16-619_16-618dup
NM_175875.4:c.1378_1379dup NP_787071.2:p.Gly461ArgfsTer7
NM_175875.5:c.1378_1379dup MANE Select NP_787071.3:p.Gly461ArgfsTer7
Search 100 bp 5'
Search 100 bp 3'