Canonical Allele Identifier: CA2140896896

Gene: SIX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60644789_60644795delinsCAAAAAT , CM000676.2:g.60644789_60644795delinsCAAAAAT	GRCh38
NC_000014.8:g.61111507_61111513delinsCAAAAAT , CM000676.1:g.61111507_61111513delinsCAAAAAT	GRCh37
NC_000014.7:g.60181260_60181266delinsCAAAAAT	NCBI36
NG_008231.1:g.9643_9649delinsATTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*1488_*1494delinsATTTTTG MANE Select	ENSP00000494686.1:n.*1488_*1494delinsATTTTTG
ENST00000247182.6:c.*1488_*1494delinsATTTTTG	ENSP00000247182.5:n.*1488_*1494delinsATTTTTG
ENST00000554986.2:c.*1488_*1494delinsATTTTTG	ENSP00000452700.2:n.*1488_*1494delinsATTTTTG
NM_005982.3:c.*1488_*1494delinsATTTTTG	NP_005973.1:n.*1488_*1494delinsATTTTTG
XM_017021602.2:c.*1762_*1768delinsATTTTTG	XP_016877091.1:n.*1762_*1768delinsATTTTTG
NM_005982.4:c.*1488_*1494delinsATTTTTG MANE Select	NP_005973.1:n.*1488_*1494delinsATTTTTG