Canonical Allele Identifier: CA1948292228

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2731378_2731390delinsGGTGAGTCTGGCA , CM000673.2:g.2731378_2731390delinsGGTGAGTCTGGCA	GRCh38
NC_000011.9:g.2752608_2752620delinsGGTGAGTCTGGCA , CM000673.1:g.2752608_2752620delinsGGTGAGTCTGGCA	GRCh37
NC_000011.8:g.2709184_2709196delinsGGTGAGTCTGGCA	NCBI36
NG_008935.1:g.291388_291400delinsGGTGAGTCTGGCA , LRG_287:g.291388_291400delinsGGTGAGTCTGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-37466_1158-37454delinsGGTGAGTCTGGCA	ENSP00000434560.2:n.1158-37466_1158-37454delinsGGTGAGTCTGGCA
ENST00000646564.2:c.975-37466_975-37454delinsGGTGAGTCTGGCA	ENSP00000495806.2:n.975-37466_975-37454delinsGGTGAGTCTGGCA
ENST00000155840.12:c.1515-37466_1515-37454delinsGGTGAGTCTGGCA MANE Select	ENSP00000155840.2:n.1515-37466_1515-37454delinsGGTGAGTCTGGCA
ENST00000335475.6:c.1134-37466_1134-37454delinsGGTGAGTCTGGCA	ENSP00000334497.5:n.1134-37466_1134-37454delinsGGTGAGTCTGGCA
ENST00000646564.1:c.621-37466_621-37454delinsGGTGAGTCTGGCA	ENSP00000495806.1:n.621-37466_621-37454delinsGGTGAGTCTGGCA
ENST00000155840.9:c.1515-37466_1515-37454delinsGGTGAGTCTGGCA	ENSP00000155840.2:n.1515-37466_1515-37454delinsGGTGAGTCTGGCA
ENST00000335475.5:c.1134-37466_1134-37454delinsGGTGAGTCTGGCA	ENSP00000334497.5:n.1134-37466_1134-37454delinsGGTGAGTCTGGCA
NM_000218.2:c.1515-37466_1515-37454delinsGGTGAGTCTGGCA , LRG_287t1:c.1515-37466_1515-37454delinsGGTGAGTCTGGCA	NP_000209.2:n.1515-37466_1515-37454delinsGGTGAGTCTGGCA
NM_181798.1:c.1134-37466_1134-37454delinsGGTGAGTCTGGCA , LRG_287t2:c.1134-37466_1134-37454delinsGGTGAGTCTGGCA	NP_861463.1:n.1134-37466_1134-37454delinsGGTGAGTCTGGCA
NM_000218.3:c.1515-37466_1515-37454delinsGGTGAGTCTGGCA MANE Select	NP_000209.2:n.1515-37466_1515-37454delinsGGTGAGTCTGGCA