Canonical Allele Identifier: CA1948159980

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444732_2444750delinsTGGGGGCGGGGGCGCAGGC , CM000673.2:g.2444732_2444750delinsTGGGGGCGGGGGCGCAGGC	GRCh38
NC_000011.9:g.2465962_2465980delinsTGGGGGCGGGGGCGCAGGC , CM000673.1:g.2465962_2465980delinsTGGGGGCGGGGGCGCAGGC	GRCh37
NC_000011.8:g.2422538_2422556delinsTGGGGGCGGGGGCGCAGGC	NCBI36
NG_008935.1:g.4742_4760delinsTGGGGGCGGGGGCGCAGGC , LRG_287:g.4742_4760delinsTGGGGGCGGGGGCGCAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.23+24_23+42delinsTGGGGGCGGGGGCGCAGGC	ENSP00000434560.2:n.23+24_23+42delinsTGGGGGCGGGGGCGCAGGC
ENST00000496887.6:c.23+24_23+42delinsTGGGGGCGGGGGCGCAGGC	ENSP00000434560.1:n.23+24_23+42delinsTGGGGGCGGGGGCGCAGGC