Canonical Allele Identifier: CA2625128846

Gene: SIX1

Linked Data

• gnomAD v4: 14-60649251-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649256dup , CM000676.2:g.60649256dup	GRCh38
NC_000014.8:g.61115974dup , CM000676.1:g.61115974dup	GRCh37
NC_000014.7:g.60185727dup	NCBI36
NG_008231.1:g.5186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.-63dup MANE Select	ENSP00000494686.1:n.-63dup
ENST00000247182.6:c.-63dup	ENSP00000247182.5:n.-63dup
ENST00000553535.2:n.249-2675dup
ENST00000554986.2:c.42-2675dup	ENSP00000452700.2:n.42-2675dup
ENST00000555955.3:n.1198-2675dup
NM_005982.3:c.-63dup	NP_005973.1:n.-63dup
XM_017021602.2:c.-63dup	XP_016877091.1:n.-63dup
NM_005982.4:c.-63dup MANE Select	NP_005973.1:n.-63dup