Canonical Allele Identifier: CA10645504

Gene: SIX1

Linked Data

• ClinVar Variation Id: 313443
• ClinVar RCV Id: RCV000363723 ; RCV000392941
• dbSNP Id: rs3832952
• gnomAD v2: 14-61111729-CAT-C
• gnomAD v3: 14-60645011-CAT-C
• gnomAD v4: 14-60645011-CAT-C
• MyVariant Identifiers: chr14:g.61111730_61111731del (hg19) ; chr14:g.60645012_60645013del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60645014_60645015del , CM000676.2:g.60645014_60645015del	GRCh38
NC_000014.8:g.61111732_61111733del , CM000676.1:g.61111732_61111733del	GRCh37
NC_000014.7:g.60181485_60181486del	NCBI36
NG_008231.1:g.9425_9426del

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.*1270_*1271del MANE Select	ENSP00000494686.1:n.*1270_*1271del
ENST00000247182.6:c.*1270_*1271del	ENSP00000247182.5:n.*1270_*1271del
ENST00000554986.2:c.*1270_*1271del	ENSP00000452700.2:n.*1270_*1271del
ENST00000555955.3:n.2762_2763del
NM_005982.3:c.*1270_*1271del	NP_005973.1:n.*1270_*1271del
XM_017021602.2:c.*1544_*1545del	XP_016877091.1:n.*1544_*1545del
NM_005982.4:c.*1270_*1271del MANE Select	NP_005973.1:n.*1270_*1271del