Canonical Allele Identifier: CA915947934

Gene: KCNQ1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570716_2570717del , CM000673.2:g.2570716_2570717del	GRCh38
NC_000011.9:g.2591946_2591947del , CM000673.1:g.2591946_2591947del	GRCh37
NC_000011.8:g.2548522_2548523del	NCBI36
NG_008935.1:g.130726_130727del , LRG_287:g.130726_130727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.305_306del	ENSP00000434560.2:p.Gly102AlafsTer?
ENST00000646564.2:c.478-12719_478-12718del	ENSP00000495806.2:n.478-12719_478-12718del
ENST00000155840.12:c.566_567del MANE Select	ENSP00000155840.2:p.Gly189AlafsTer?
ENST00000335475.6:c.185_186del	ENSP00000334497.5:p.Gly62AlafsTer?
ENST00000646564.1:c.124-12719_124-12718del	ENSP00000495806.1:n.124-12719_124-12718del
ENST00000155840.9:c.566_567del	ENSP00000155840.2:p.Gly189AlafsTer?
ENST00000335475.5:c.185_186del	ENSP00000334497.5:p.Gly62AlafsTer?
ENST00000496887.6:c.305_306del	ENSP00000434560.1:p.Gly102AlafsTer?
NM_000218.2:c.566_567del , LRG_287t1:c.566_567del	NP_000209.2:p.Gly189AlafsTer?
NM_181798.1:c.185_186del , LRG_287t2:c.185_186del	NP_861463.1:p.Gly62AlafsTer?
NM_000218.3:c.566_567del MANE Select	NP_000209.2:p.Gly189AlafsTer?