Canonical Allele Identifier: CA2625128854

Gene: SIX1

Linked Data

• gnomAD v4: 14-60649254-GGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649261_60649263del , CM000676.2:g.60649261_60649263del	GRCh38
NC_000014.8:g.61115979_61115981del , CM000676.1:g.61115979_61115981del	GRCh37
NC_000014.7:g.60185732_60185734del	NCBI36
NG_008231.1:g.5181_5183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.-68_-66del MANE Select	ENSP00000494686.1:n.-68_-66del
ENST00000247182.6:c.-68_-66del	ENSP00000247182.5:n.-68_-66del
ENST00000553535.2:n.248+2678_249-2678del
ENST00000554986.2:c.42-2680_42-2678del	ENSP00000452700.2:n.42-2680_42-2678del
ENST00000555955.3:n.1197+2678_1198-2678del
NM_005982.3:c.-68_-66del	NP_005973.1:n.-68_-66del
XM_017021602.2:c.-68_-66del	XP_016877091.1:n.-68_-66del
NM_005982.4:c.-68_-66del MANE Select	NP_005973.1:n.-68_-66del