Canonical Allele Identifier: CA2580615604

Gene: KCNQ1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587660_2587661insG , CM000673.2:g.2587660_2587661insG	GRCh38
NC_000011.9:g.2608890_2608891insG , CM000673.1:g.2608890_2608891insG	GRCh37
NC_000011.8:g.2565466_2565467insG	NCBI36
NG_008935.1:g.147670_147671insG , LRG_287:g.147670_147671insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.862_863insG	ENSP00000434560.2:p.Ser288CysfsTer?
ENST00000646564.2:c.679_680insG	ENSP00000495806.2:p.Ser227CysfsTer?
ENST00000155840.12:c.1219_1220insG MANE Select	ENSP00000155840.2:p.Ser407CysfsTer?
ENST00000335475.6:c.838_839insG	ENSP00000334497.5:p.Ser280CysfsTer?
ENST00000646564.1:c.325_326insG	ENSP00000495806.1:p.Ser109CysfsTer?
ENST00000155840.9:c.1219_1220insG	ENSP00000155840.2:p.Ser407CysfsTer?
ENST00000335475.5:c.838_839insG	ENSP00000334497.5:p.Ser280CysfsTer?
NM_000218.2:c.1219_1220insG , LRG_287t1:c.1219_1220insG	NP_000209.2:p.Ser407CysfsTer?
NM_181798.1:c.838_839insG , LRG_287t2:c.838_839insG	NP_861463.1:p.Ser280CysfsTer?
NM_000218.3:c.1219_1220insG MANE Select	NP_000209.2:p.Ser407CysfsTer?