Canonical Allele Identifier: CA2140897047

Gene: SIX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60645011_60645013delinsCAT , CM000676.2:g.60645011_60645013delinsCAT	GRCh38
NC_000014.8:g.61111729_61111731delinsCAT , CM000676.1:g.61111729_61111731delinsCAT	GRCh37
NC_000014.7:g.60181482_60181484delinsCAT	NCBI36
NG_008231.1:g.9425_9427delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*1270_*1272delinsATG MANE Select	ENSP00000494686.1:n.*1270_*1272delinsATG
ENST00000247182.6:c.*1270_*1272delinsATG	ENSP00000247182.5:n.*1270_*1272delinsATG
ENST00000554986.2:c.*1270_*1272delinsATG	ENSP00000452700.2:n.*1270_*1272delinsATG
ENST00000555955.3:n.2762_2764delinsATG
NM_005982.3:c.*1270_*1272delinsATG	NP_005973.1:n.*1270_*1272delinsATG
XM_017021602.2:c.*1544_*1546delinsATG	XP_016877091.1:n.*1544_*1546delinsATG
NM_005982.4:c.*1270_*1272delinsATG MANE Select	NP_005973.1:n.*1270_*1272delinsATG