Canonical Allele Identifier: CA1948212052

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572922_2572941delinsACGCGGTGAACGAGTCAGGC , CM000673.2:g.2572922_2572941delinsACGCGGTGAACGAGTCAGGC	GRCh38
NC_000011.9:g.2594152_2594171delinsACGCGGTGAACGAGTCAGGC , CM000673.1:g.2594152_2594171delinsACGCGGTGAACGAGTCAGGC	GRCh37
NC_000011.8:g.2550728_2550747delinsACGCGGTGAACGAGTCAGGC	NCBI36
NG_008935.1:g.132932_132951delinsACGCGGTGAACGAGTCAGGC , LRG_287:g.132932_132951delinsACGCGGTGAACGAGTCAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.596_615delinsACGCGGTGAACGAGTCAGGC	ENSP00000434560.2:p.Asp199=
ENST00000646564.2:c.478-10513_478-10494delinsACGCGGTGAACGAGTCAGGC	ENSP00000495806.2:n.478-10513_478-10494delinsACGCGGTGAACGAGTC...
ENST00000155840.12:c.857_876delinsACGCGGTGAACGAGTCAGGC MANE Select	ENSP00000155840.2:p.Asp286=
ENST00000335475.6:c.476_495delinsACGCGGTGAACGAGTCAGGC	ENSP00000334497.5:p.Asp159=
ENST00000646564.1:c.124-10513_124-10494delinsACGCGGTGAACGAGTCAGGC	ENSP00000495806.1:n.124-10513_124-10494delinsACGCGGTGAACGAGTC...
ENST00000155840.9:c.857_876delinsACGCGGTGAACGAGTCAGGC	ENSP00000155840.2:p.Asp286=
ENST00000335475.5:c.476_495delinsACGCGGTGAACGAGTCAGGC	ENSP00000334497.5:p.Asp159=
NM_000218.2:c.857_876delinsACGCGGTGAACGAGTCAGGC , LRG_287t1:c.857_876delinsACGCGGTGAACGAGTCAGGC	NP_000209.2:p.Asp286=
NM_181798.1:c.476_495delinsACGCGGTGAACGAGTCAGGC , LRG_287t2:c.476_495delinsACGCGGTGAACGAGTCAGGC	NP_861463.1:p.Asp159=
NM_000218.3:c.857_876delinsACGCGGTGAACGAGTCAGGC MANE Select	NP_000209.2:p.Asp286=