Canonical Allele Identifier: CA2695213192

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585252_2585257dup , CM000673.2:g.2585252_2585257dup	GRCh38
NC_000011.9:g.2606482_2606487dup , CM000673.1:g.2606482_2606487dup	GRCh37
NC_000011.8:g.2563058_2563063dup	NCBI36
NG_008935.1:g.145262_145267dup , LRG_287:g.145262_145267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1707_771+1712dup	ENSP00000434560.2:n.771+1707_771+1712dup
ENST00000646564.2:c.588+1707_588+1712dup	ENSP00000495806.2:n.588+1707_588+1712dup
ENST00000155840.12:c.1073_1078dup MANE Select	ENSP00000155840.2:p.Gln359_Arg360insLysGln
ENST00000335475.6:c.692_697dup	ENSP00000334497.5:p.Gln232_Arg233insLysGln
ENST00000646564.1:c.234+1707_234+1712dup	ENSP00000495806.1:n.234+1707_234+1712dup
ENST00000155840.9:c.1073_1078dup	ENSP00000155840.2:p.Gln359_Arg360insLysGln
ENST00000335475.5:c.692_697dup	ENSP00000334497.5:p.Gln232_Arg233insLysGln
NM_000218.2:c.1073_1078dup , LRG_287t1:c.1073_1078dup	NP_000209.2:p.Gln359_Arg360insLysGln
NM_181798.1:c.692_697dup , LRG_287t2:c.692_697dup	NP_861463.1:p.Gln232_Arg233insLysGln
NM_000218.3:c.1073_1078dup MANE Select	NP_000209.2:p.Gln359_Arg360insLysGln