Canonical Allele Identifier: CA2695212962

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588821_2588836del , CM000673.2:g.2588821_2588836del	GRCh38
NC_000011.9:g.2610051_2610066del , CM000673.1:g.2610051_2610066del	GRCh37
NC_000011.8:g.2566627_2566642del	NCBI36
NG_008935.1:g.148831_148846del , LRG_287:g.148831_148846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1003_1018del	ENSP00000434560.2:p.Asp335ThrfsTer7
ENST00000646564.2:c.820_835del	ENSP00000495806.2:p.Asp274ThrfsTer7
ENST00000155840.12:c.1360_1375del MANE Select	ENSP00000155840.2:p.Asp454ThrfsTer7
ENST00000335475.6:c.979_994del	ENSP00000334497.5:p.Asp327ThrfsTer7
ENST00000646564.1:c.466_481del	ENSP00000495806.1:p.Asp156ThrfsTer7
ENST00000155840.9:c.1360_1375del	ENSP00000155840.2:p.Asp454ThrfsTer7
ENST00000335475.5:c.979_994del	ENSP00000334497.5:p.Asp327ThrfsTer7
NM_000218.2:c.1360_1375del , LRG_287t1:c.1360_1375del	NP_000209.2:p.Asp454ThrfsTer7
NM_181798.1:c.979_994del , LRG_287t2:c.979_994del	NP_861463.1:p.Asp327ThrfsTer7
NM_000218.3:c.1360_1375del MANE Select	NP_000209.2:p.Asp454ThrfsTer7