Canonical Allele Identifier: CA1948243095

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572737_2572747delinsGCGGCGTAGGA , CM000673.2:g.2572737_2572747delinsGCGGCGTAGGA	GRCh38
NC_000011.9:g.2593967_2593977delinsGCGGCGTAGGA , CM000673.1:g.2593967_2593977delinsGCGGCGTAGGA	GRCh37
NC_000011.8:g.2550543_2550553delinsGCGGCGTAGGA	NCBI36
NG_008935.1:g.132747_132757delinsGCGGCGTAGGA , LRG_287:g.132747_132757delinsGCGGCGTAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.520-109_520-99delinsGCGGCGTAGGA	ENSP00000434560.2:n.520-109_520-99delinsGCGGCGTAGGA
ENST00000646564.2:c.478-10698_478-10688delinsGCGGCGTAGGA	ENSP00000495806.2:n.478-10698_478-10688delinsGCGGCGTAGGA
ENST00000155840.12:c.781-109_781-99delinsGCGGCGTAGGA MANE Select	ENSP00000155840.2:n.781-109_781-99delinsGCGGCGTAGGA
ENST00000335475.6:c.400-109_400-99delinsGCGGCGTAGGA	ENSP00000334497.5:n.400-109_400-99delinsGCGGCGTAGGA
ENST00000646564.1:c.124-10698_124-10688delinsGCGGCGTAGGA	ENSP00000495806.1:n.124-10698_124-10688delinsGCGGCGTAGGA
ENST00000155840.9:c.781-109_781-99delinsGCGGCGTAGGA	ENSP00000155840.2:n.781-109_781-99delinsGCGGCGTAGGA
ENST00000335475.5:c.400-109_400-99delinsGCGGCGTAGGA	ENSP00000334497.5:n.400-109_400-99delinsGCGGCGTAGGA
ENST00000496887.6:c.520-109_520-99delinsGCGGCGTAGGA	ENSP00000434560.1:n.520-109_520-99delinsGCGGCGTAGGA
NM_000218.2:c.781-109_781-99delinsGCGGCGTAGGA , LRG_287t1:c.781-109_781-99delinsGCGGCGTAGGA	NP_000209.2:n.781-109_781-99delinsGCGGCGTAGGA
NM_181798.1:c.400-109_400-99delinsGCGGCGTAGGA , LRG_287t2:c.400-109_400-99delinsGCGGCGTAGGA	NP_861463.1:n.400-109_400-99delinsGCGGCGTAGGA
NM_000218.3:c.781-109_781-99delinsGCGGCGTAGGA MANE Select	NP_000209.2:n.781-109_781-99delinsGCGGCGTAGGA