Canonical Allele Identifier: CA2625129004

Gene: SIX1

Linked Data

• gnomAD v4: 14-60649351-CAAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649355_60649358del , CM000676.2:g.60649355_60649358del	GRCh38
NC_000014.8:g.61116073_61116076del , CM000676.1:g.61116073_61116076del	GRCh37
NC_000014.7:g.60185826_60185829del	NCBI36
NG_008231.1:g.5083_5086del

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.-166_-163del MANE Select	ENSP00000494686.1:n.-166_-163del
ENST00000247182.6:c.-166_-163del	ENSP00000247182.5:n.-166_-163del
ENST00000553535.2:n.248+2580_248+2583del
ENST00000554986.2:c.42-2778_42-2775del	ENSP00000452700.2:n.42-2778_42-2775del
ENST00000555955.3:n.1197+2580_1197+2583del
NM_005982.3:c.-166_-163del	NP_005973.1:n.-166_-163del
XM_017021602.2:c.-166_-163del	XP_016877091.1:n.-166_-163del
NM_005982.4:c.-166_-163del MANE Select	NP_005973.1:n.-166_-163del