Canonical Allele Identifier: CA1948242896

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572349_2572350delinsAC , CM000673.2:g.2572349_2572350delinsAC	GRCh38
NC_000011.9:g.2593579_2593580delinsAC , CM000673.1:g.2593579_2593580delinsAC	GRCh37
NC_000011.8:g.2550155_2550156delinsAC	NCBI36
NG_008935.1:g.132359_132360delinsAC , LRG_287:g.132359_132360delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.519+240_519+241delinsAC	ENSP00000434560.2:n.519+240_519+241delinsAC
ENST00000646564.2:c.478-11086_478-11085delinsAC	ENSP00000495806.2:n.478-11086_478-11085delinsAC
ENST00000155840.12:c.780+240_780+241delinsAC MANE Select	ENSP00000155840.2:n.780+240_780+241delinsAC
ENST00000335475.6:c.399+240_399+241delinsAC	ENSP00000334497.5:n.399+240_399+241delinsAC
ENST00000646564.1:c.124-11086_124-11085delinsAC	ENSP00000495806.1:n.124-11086_124-11085delinsAC
ENST00000155840.9:c.780+240_780+241delinsAC	ENSP00000155840.2:n.780+240_780+241delinsAC
ENST00000335475.5:c.399+240_399+241delinsAC	ENSP00000334497.5:n.399+240_399+241delinsAC
ENST00000496887.6:c.519+240_519+241delinsAC	ENSP00000434560.1:n.519+240_519+241delinsAC
NM_000218.2:c.780+240_780+241delinsAC , LRG_287t1:c.780+240_780+241delinsAC	NP_000209.2:n.780+240_780+241delinsAC
NM_181798.1:c.399+240_399+241delinsAC , LRG_287t2:c.399+240_399+241delinsAC	NP_861463.1:n.399+240_399+241delinsAC
NM_000218.3:c.780+240_780+241delinsAC MANE Select	NP_000209.2:n.780+240_780+241delinsAC