Canonical Allele Identifier: CA2612004413

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2588826-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588827_2588828del , CM000673.2:g.2588827_2588828del	GRCh38
NC_000011.9:g.2610057_2610058del , CM000673.1:g.2610057_2610058del	GRCh37
NC_000011.8:g.2566633_2566634del	NCBI36
NG_008935.1:g.148837_148838del , LRG_287:g.148837_148838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1009_1010del	ENSP00000434560.2:p.Phe337LeufsTer6
ENST00000646564.2:c.826_827del	ENSP00000495806.2:p.Phe276LeufsTer6
ENST00000155840.12:c.1366_1367del MANE Select	ENSP00000155840.2:p.Phe456LeufsTer6
ENST00000335475.6:c.985_986del	ENSP00000334497.5:p.Phe329LeufsTer6
ENST00000646564.1:c.472_473del	ENSP00000495806.1:p.Phe158LeufsTer6
ENST00000155840.9:c.1366_1367del	ENSP00000155840.2:p.Phe456LeufsTer6
ENST00000335475.5:c.985_986del	ENSP00000334497.5:p.Phe329LeufsTer6
NM_000218.2:c.1366_1367del , LRG_287t1:c.1366_1367del	NP_000209.2:p.Phe456LeufsTer6
NM_181798.1:c.985_986del , LRG_287t2:c.985_986del	NP_861463.1:p.Phe329LeufsTer6
NM_000218.3:c.1366_1367del MANE Select	NP_000209.2:p.Phe456LeufsTer6