Canonical Allele Identifier: CA2625128244

Gene: SIX1

Linked Data

• gnomAD v4: 14-60645048-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60645049del , CM000676.2:g.60645049del	GRCh38
NC_000014.8:g.61111767del , CM000676.1:g.61111767del	GRCh37
NC_000014.7:g.60181520del	NCBI36
NG_008231.1:g.9389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*1234del MANE Select	ENSP00000494686.1:n.*1234del
ENST00000247182.6:c.*1234del	ENSP00000247182.5:n.*1234del
ENST00000554986.2:c.*1234del	ENSP00000452700.2:n.*1234del
ENST00000555955.3:n.2726del
NM_005982.3:c.*1234del	NP_005973.1:n.*1234del
XM_017021602.2:c.*1508del	XP_016877091.1:n.*1508del
NM_005982.4:c.*1234del MANE Select	NP_005973.1:n.*1234del