Canonical Allele Identifier: CA633481773
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1194483295
gnomAD v2: 19-46270154-TGGAGGCCTCGCCCAGGGCCAGGCC-T
gnomAD v4: 19-45766896-TGGAGGCCTCGCCCAGGGCCAGGCC-T
MyVariant Identifiers: chr19:g.46270155_46270178del (hg19) chr19:g.45766897_45766920del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766898_45766921del , CM000681.2:g.45766898_45766921del GRCh38
NC_000019.9:g.46270156_46270179del , CM000681.1:g.46270156_46270179del GRCh37
NC_000019.8:g.50961996_50962019del NCBI36
NG_012745.1:g.7320_7343del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1039_1062del MANE Select ENSP00000316842.4:p.Gly347_Ser354del
ENST00000317578.6:c.1039_1062del ENSP00000316842.4:p.Gly347_Ser354del
ENST00000560160.1:c.587-809_587-786del
ENST00000560168.1:c.*227_*250del ENSP00000453189.2:n.*227_*250del
ENST00000622857.1:c.16-958_16-935del ENSP00000481365.1:n.16-958_16-935del
NM_175875.4:c.1039_1062del NP_787071.2:p.Gly347_Ser354del
NM_175875.5:c.1039_1062del MANE Select NP_787071.3:p.Gly347_Ser354del
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Search 100 bp 3'