Canonical Allele Identifier: CA2585856601
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45767049-T-TGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767051_45767053dup , CM000681.2:g.45767051_45767053dup GRCh38
NC_000019.9:g.46270309_46270311dup , CM000681.1:g.46270309_46270311dup GRCh37
NC_000019.8:g.50962149_50962151dup NCBI36
NG_012745.1:g.7188_7190dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.907_909dup MANE Select ENSP00000316842.4:p.Ser303_Ile304insSer
ENST00000317578.6:c.907_909dup ENSP00000316842.4:p.Ser303_Ile304insSer
ENST00000560160.1:c.587-941_587-939dup
ENST00000560168.1:c.*95_*97dup ENSP00000453189.2:n.*95_*97dup
ENST00000622857.1:c.16-1090_16-1088dup ENSP00000481365.1:n.16-1090_16-1088dup
NM_175875.4:c.907_909dup NP_787071.2:p.Ser303_Ile304insSer
NM_175875.5:c.907_909dup MANE Select NP_787071.3:p.Ser303_Ile304insSer
Search 100 bp 5'
Search 100 bp 3'