Canonical Allele Identifier: CA1948239562

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570664_2570675delinsGTGGTCCGCCTC , CM000673.2:g.2570664_2570675delinsGTGGTCCGCCTC	GRCh38
NC_000011.9:g.2591894_2591905delinsGTGGTCCGCCTC , CM000673.1:g.2591894_2591905delinsGTGGTCCGCCTC	GRCh37
NC_000011.8:g.2548470_2548481delinsGTGGTCCGCCTC	NCBI36
NG_008935.1:g.130674_130685delinsGTGGTCCGCCTC , LRG_287:g.130674_130685delinsGTGGTCCGCCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.253_264delinsGTGGTCCGCCTC	ENSP00000434560.2:p.Val85=
ENST00000646564.2:c.478-12771_478-12760delinsGTGGTCCGCCTC	ENSP00000495806.2:n.478-12771_478-12760delinsGTGGTCCGCCTC
ENST00000155840.12:c.514_525delinsGTGGTCCGCCTC MANE Select	ENSP00000155840.2:p.Val172=
ENST00000335475.6:c.133_144delinsGTGGTCCGCCTC	ENSP00000334497.5:p.Val45=
ENST00000646564.1:c.124-12771_124-12760delinsGTGGTCCGCCTC	ENSP00000495806.1:n.124-12771_124-12760delinsGTGGTCCGCCTC
ENST00000155840.9:c.514_525delinsGTGGTCCGCCTC	ENSP00000155840.2:p.Val172=
ENST00000335475.5:c.133_144delinsGTGGTCCGCCTC	ENSP00000334497.5:p.Val45=
ENST00000496887.6:c.253_264delinsGTGGTCCGCCTC	ENSP00000434560.1:p.Val85=
NM_000218.2:c.514_525delinsGTGGTCCGCCTC , LRG_287t1:c.514_525delinsGTGGTCCGCCTC	NP_000209.2:p.Val172=
NM_181798.1:c.133_144delinsGTGGTCCGCCTC , LRG_287t2:c.133_144delinsGTGGTCCGCCTC	NP_861463.1:p.Val45=
NM_000218.3:c.514_525delinsGTGGTCCGCCTC MANE Select	NP_000209.2:p.Val172=