Canonical Allele Identifier: CA1948242860

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572281_2572300delinsGCCCAGCCTGGATGCTCCAC , CM000673.2:g.2572281_2572300delinsGCCCAGCCTGGATGCTCCAC	GRCh38
NC_000011.9:g.2593511_2593530delinsGCCCAGCCTGGATGCTCCAC , CM000673.1:g.2593511_2593530delinsGCCCAGCCTGGATGCTCCAC	GRCh37
NC_000011.8:g.2550087_2550106delinsGCCCAGCCTGGATGCTCCAC	NCBI36
NG_008935.1:g.132291_132310delinsGCCCAGCCTGGATGCTCCAC , LRG_287:g.132291_132310delinsGCCCAGCCTGGATGCTCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+172_519+191delinsGCCCAGCCTGGATGCTCCAC	ENSP00000434560.2:n.519+172_519+191delinsGCCCAGCCTGGATGCTCCAC...
ENST00000646564.2:c.478-11154_478-11135delinsGCCCAGCCTGGATGCTCCAC	ENSP00000495806.2:n.478-11154_478-11135delinsGCCCAGCCTGGATGCT...
ENST00000155840.12:c.780+172_780+191delinsGCCCAGCCTGGATGCTCCAC MANE Select	ENSP00000155840.2:n.780+172_780+191delinsGCCCAGCCTGGATGCTCCAC...
ENST00000335475.6:c.399+172_399+191delinsGCCCAGCCTGGATGCTCCAC	ENSP00000334497.5:n.399+172_399+191delinsGCCCAGCCTGGATGCTCCAC...
ENST00000646564.1:c.124-11154_124-11135delinsGCCCAGCCTGGATGCTCCAC	ENSP00000495806.1:n.124-11154_124-11135delinsGCCCAGCCTGGATGCT...
ENST00000155840.9:c.780+172_780+191delinsGCCCAGCCTGGATGCTCCAC	ENSP00000155840.2:n.780+172_780+191delinsGCCCAGCCTGGATGCTCCAC...
ENST00000335475.5:c.399+172_399+191delinsGCCCAGCCTGGATGCTCCAC	ENSP00000334497.5:n.399+172_399+191delinsGCCCAGCCTGGATGCTCCAC...
ENST00000496887.6:c.519+172_519+191delinsGCCCAGCCTGGATGCTCCAC	ENSP00000434560.1:n.519+172_519+191delinsGCCCAGCCTGGATGCTCCAC...
NM_000218.2:c.780+172_780+191delinsGCCCAGCCTGGATGCTCCAC , LRG_287t1:c.780+172_780+191delinsGCCCAGCCTGGATGCTCCAC	NP_000209.2:n.780+172_780+191delinsGCCCAGCCTGGATGCTCCAC
NM_181798.1:c.399+172_399+191delinsGCCCAGCCTGGATGCTCCAC , LRG_287t2:c.399+172_399+191delinsGCCCAGCCTGGATGCTCCAC	NP_861463.1:n.399+172_399+191delinsGCCCAGCCTGGATGCTCCAC
NM_000218.3:c.780+172_780+191delinsGCCCAGCCTGGATGCTCCAC MANE Select	NP_000209.2:n.780+172_780+191delinsGCCCAGCCTGGATGCTCCAC