Canonical Allele Identifier: CA1948242714

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572060_2572062delinsAGG , CM000673.2:g.2572060_2572062delinsAGG	GRCh38
NC_000011.9:g.2593290_2593292delinsAGG , CM000673.1:g.2593290_2593292delinsAGG	GRCh37
NC_000011.8:g.2549866_2549868delinsAGG	NCBI36
NG_008935.1:g.132070_132072delinsAGG , LRG_287:g.132070_132072delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.470_472delinsAGG	ENSP00000434560.2:p.Gln157=
ENST00000646564.2:c.478-11375_478-11373delinsAGG	ENSP00000495806.2:n.478-11375_478-11373delinsAGG
ENST00000155840.12:c.731_733delinsAGG MANE Select	ENSP00000155840.2:p.Gln244=
ENST00000335475.6:c.350_352delinsAGG	ENSP00000334497.5:p.Gln117=
ENST00000646564.1:c.124-11375_124-11373delinsAGG	ENSP00000495806.1:n.124-11375_124-11373delinsAGG
ENST00000155840.9:c.731_733delinsAGG	ENSP00000155840.2:p.Gln244=
ENST00000335475.5:c.350_352delinsAGG	ENSP00000334497.5:p.Gln117=
ENST00000496887.6:c.470_472delinsAGG	ENSP00000434560.1:p.Gln157=
NM_000218.2:c.731_733delinsAGG , LRG_287t1:c.731_733delinsAGG	NP_000209.2:p.Gln244=
NM_181798.1:c.350_352delinsAGG , LRG_287t2:c.350_352delinsAGG	NP_861463.1:p.Gln117=
NM_000218.3:c.731_733delinsAGG MANE Select	NP_000209.2:p.Gln244=