Canonical Allele Identifier: CA2695213187

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583495_2583503del , CM000673.2:g.2583495_2583503del	GRCh38
NC_000011.9:g.2604725_2604733del , CM000673.1:g.2604725_2604733del	GRCh37
NC_000011.8:g.2561301_2561309del	NCBI36
NG_008935.1:g.143505_143513del , LRG_287:g.143505_143513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.721_729del	ENSP00000434560.2:p.Ile241_Ser243del
ENST00000646564.2:c.538_546del	ENSP00000495806.2:p.Ile180_Ser182del
ENST00000155840.12:c.982_990del MANE Select	ENSP00000155840.2:p.Ile328_Ser330del
ENST00000335475.6:c.601_609del	ENSP00000334497.5:p.Ile201_Ser203del
ENST00000646564.1:c.184_192del	ENSP00000495806.1:p.Ile62_Ser64del
ENST00000155840.9:c.982_990del	ENSP00000155840.2:p.Ile328_Ser330del
ENST00000335475.5:c.601_609del	ENSP00000334497.5:p.Ile201_Ser203del
NM_000218.2:c.982_990del , LRG_287t1:c.982_990del	NP_000209.2:p.Ile328_Ser330del
NM_181798.1:c.601_609del , LRG_287t2:c.601_609del	NP_861463.1:p.Ile201_Ser203del
NM_000218.3:c.982_990del MANE Select	NP_000209.2:p.Ile328_Ser330del