Canonical Allele Identifier: CA1948228625

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585175_2585177delinsCTG , CM000673.2:g.2585175_2585177delinsCTG	GRCh38
NC_000011.9:g.2606405_2606407delinsCTG , CM000673.1:g.2606405_2606407delinsCTG	GRCh37
NC_000011.8:g.2562981_2562983delinsCTG	NCBI36
NG_008935.1:g.145185_145187delinsCTG , LRG_287:g.145185_145187delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1630_771+1632delinsCTG	ENSP00000434560.2:n.771+1630_771+1632delinsCTG
ENST00000646564.2:c.588+1630_588+1632delinsCTG	ENSP00000495806.2:n.588+1630_588+1632delinsCTG
ENST00000155840.12:c.1033-37_1033-35delinsCTG MANE Select	ENSP00000155840.2:n.1033-37_1033-35delinsCTG
ENST00000335475.6:c.652-37_652-35delinsCTG	ENSP00000334497.5:n.652-37_652-35delinsCTG
ENST00000646564.1:c.234+1630_234+1632delinsCTG	ENSP00000495806.1:n.234+1630_234+1632delinsCTG
ENST00000155840.9:c.1033-37_1033-35delinsCTG	ENSP00000155840.2:n.1033-37_1033-35delinsCTG
ENST00000335475.5:c.652-37_652-35delinsCTG	ENSP00000334497.5:n.652-37_652-35delinsCTG
NM_000218.2:c.1033-37_1033-35delinsCTG , LRG_287t1:c.1033-37_1033-35delinsCTG	NP_000209.2:n.1033-37_1033-35delinsCTG
NM_181798.1:c.652-37_652-35delinsCTG , LRG_287t2:c.652-37_652-35delinsCTG	NP_861463.1:n.652-37_652-35delinsCTG
NM_000218.3:c.1033-37_1033-35delinsCTG MANE Select	NP_000209.2:n.1033-37_1033-35delinsCTG