Canonical Allele Identifier: CA614369376
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1436828760
gnomAD v2: 14-61111595-GCTTT-G
gnomAD v3: 14-60644877-GCTTT-G
gnomAD v4: 14-60644877-GCTTT-G
MyVariant Identifiers: chr14:g.61111596_61111599del (hg19) chr14:g.60644878_60644881del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644880_60644883del , CM000676.2:g.60644880_60644883del GRCh38
NC_000014.8:g.61111598_61111601del , CM000676.1:g.61111598_61111601del GRCh37
NC_000014.7:g.60181351_60181354del NCBI36
NG_008231.1:g.9557_9560del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1402_*1405del MANE Select ENSP00000494686.1:n.*1402_*1405del
ENST00000247182.6:c.*1402_*1405del ENSP00000247182.5:n.*1402_*1405del
ENST00000554986.2:c.*1402_*1405del ENSP00000452700.2:n.*1402_*1405del
NM_005982.3:c.*1402_*1405del NP_005973.1:n.*1402_*1405del
XM_017021602.2:c.*1676_*1679del XP_016877091.1:n.*1676_*1679del
NM_005982.4:c.*1402_*1405del MANE Select NP_005973.1:n.*1402_*1405del
Search 100 bp 5'
Search 100 bp 3'