Canonical Allele Identifier: CA2140881212

Gene: SIX1

Linked Data

• dbSNP Id: rs1895013952
• gnomAD v4: 14-60649204-G-GGGGCGCACGGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649205_60649217dup , CM000676.2:g.60649205_60649217dup	GRCh38
NC_000014.8:g.61115923_61115935dup , CM000676.1:g.61115923_61115935dup	GRCh37
NC_000014.7:g.60185676_60185688dup	NCBI36
NG_008231.1:g.5221_5233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.-28_-16dup MANE Select	ENSP00000494686.1:n.-28_-16dup
ENST00000247182.6:c.-28_-16dup	ENSP00000247182.5:n.-28_-16dup
ENST00000553535.2:n.249-2640_249-2628dup
ENST00000554986.2:c.42-2640_42-2628dup	ENSP00000452700.2:n.42-2640_42-2628dup
ENST00000555955.3:n.1198-2640_1198-2628dup
NM_005982.3:c.-28_-16dup	NP_005973.1:n.-28_-16dup
XM_017021602.2:c.-28_-16dup	XP_016877091.1:n.-28_-16dup
NM_005982.4:c.-28_-16dup MANE Select	NP_005973.1:n.-28_-16dup