Canonical Allele Identifier: CA10635000
Gene: SIX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 313461
ClinVar RCV Id: RCV000283699 RCV000343348
dbSNP Id: rs886050570
gnomAD v3: 14-60646003-TTTTG-T
gnomAD v4: 14-60646003-TTTTG-T
MyVariant Identifiers: chr14:g.61112722_61112725del (hg19) chr14:g.60646004_60646007del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60646012_60646015del , CM000676.2:g.60646012_60646015del GRCh38
NC_000014.8:g.61112730_61112733del , CM000676.1:g.61112730_61112733del GRCh37
NC_000014.7:g.60182483_60182486del NCBI36
NG_008231.1:g.8431_8434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*276_*279del MANE Select ENSP00000494686.1:n.*276_*279del
ENST00000247182.6:c.*276_*279del ENSP00000247182.5:n.*276_*279del
ENST00000553535.2:n.819_822del
ENST00000554986.2:c.*276_*279del ENSP00000452700.2:n.*276_*279del
ENST00000555955.3:n.1768_1771del
NM_005982.3:c.*276_*279del NP_005973.1:n.*276_*279del
XM_017021602.2:c.*550_*553del XP_016877091.1:n.*550_*553del
NM_005982.4:c.*276_*279del MANE Select NP_005973.1:n.*276_*279del
Search 100 bp 5'
Search 100 bp 3'