Canonical Allele Identifier: CA1948239517

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570659_2570660delinsAG , CM000673.2:g.2570659_2570660delinsAG	GRCh38
NC_000011.9:g.2591889_2591890delinsAG , CM000673.1:g.2591889_2591890delinsAG	GRCh37
NC_000011.8:g.2548465_2548466delinsAG	NCBI36
NG_008935.1:g.130669_130670delinsAG , LRG_287:g.130669_130670delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.248_249delinsAG	ENSP00000434560.2:p.Glu83=
ENST00000646564.2:c.478-12776_478-12775delinsAG	ENSP00000495806.2:n.478-12776_478-12775delinsAG
ENST00000155840.12:c.509_510delinsAG MANE Select	ENSP00000155840.2:p.Glu170=
ENST00000335475.6:c.128_129delinsAG	ENSP00000334497.5:p.Glu43=
ENST00000646564.1:c.124-12776_124-12775delinsAG	ENSP00000495806.1:n.124-12776_124-12775delinsAG
ENST00000155840.9:c.509_510delinsAG	ENSP00000155840.2:p.Glu170=
ENST00000335475.5:c.128_129delinsAG	ENSP00000334497.5:p.Glu43=
ENST00000496887.6:c.248_249delinsAG	ENSP00000434560.1:p.Glu83=
NM_000218.2:c.509_510delinsAG , LRG_287t1:c.509_510delinsAG	NP_000209.2:p.Glu170=
NM_181798.1:c.128_129delinsAG , LRG_287t2:c.128_129delinsAG	NP_861463.1:p.Glu43=
NM_000218.3:c.509_510delinsAG MANE Select	NP_000209.2:p.Glu170=