Canonical Allele Identifier: CA007559

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570723_2570727del , CM000673.2:g.2570723_2570727del	GRCh38
NC_000011.9:g.2591953_2591957del , CM000673.1:g.2591953_2591957del	GRCh37
NC_000011.8:g.2548529_2548533del	NCBI36
NG_008935.1:g.130733_130737del , LRG_287:g.130733_130737del

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.573_577del MANE Select	NP_000209.2:p.Arg192CysfsTer?
ENST00000155840.12:c.573_577del MANE Select	ENSP00000155840.2:p.Arg192CysfsTer?
NM_000218.2:c.573_577del , LRG_287t1:c.573_577del	NP_000209.2:p.Arg192CysfsTer?
NM_181798.1:c.192_196del , LRG_287t2:c.192_196del	NP_861463.1:p.Arg65CysfsTer?
ENST00000155840.9:c.573_577del	ENSP00000155840.2:p.Arg192CysfsTer?
ENST00000335475.5:c.192_196del	ENSP00000334497.5:p.Arg65CysfsTer?
ENST00000335475.6:c.192_196del	ENSP00000334497.5:p.Arg65CysfsTer?
ENST00000496887.6:c.312_316del	ENSP00000434560.1:p.Arg105CysfsTer?
ENST00000496887.7:c.312_316del	ENSP00000434560.2:p.Arg105CysfsTer?
ENST00000646564.1:c.124-12712_124-12708del	ENSP00000495806.1:n.124-12712_124-12708del
ENST00000646564.2:c.478-12712_478-12708del	ENSP00000495806.2:n.478-12712_478-12708del