Canonical Allele Identifier: CA1948243155

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572826_2572828delinsCTG , CM000673.2:g.2572826_2572828delinsCTG	GRCh38
NC_000011.9:g.2594056_2594058delinsCTG , CM000673.1:g.2594056_2594058delinsCTG	GRCh37
NC_000011.8:g.2550632_2550634delinsCTG	NCBI36
NG_008935.1:g.132836_132838delinsCTG , LRG_287:g.132836_132838delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.520-20_520-18delinsCTG	ENSP00000434560.2:n.520-20_520-18delinsCT...
ENST00000646564.2:c.478-10609_478-10607delinsCTG	ENSP00000495806.2:n.478-10609_478-10607de...
ENST00000155840.12:c.781-20_781-18delinsCTG MANE Select	ENSP00000155840.2:n.781-20_781-18delinsCT...
ENST00000335475.6:c.400-20_400-18delinsCTG	ENSP00000334497.5:n.400-20_400-18delinsCT...
ENST00000646564.1:c.124-10609_124-10607delinsCTG	ENSP00000495806.1:n.124-10609_124-10607de...
ENST00000155840.9:c.781-20_781-18delinsCTG	ENSP00000155840.2:n.781-20_781-18delinsCT...
ENST00000335475.5:c.400-20_400-18delinsCTG	ENSP00000334497.5:n.400-20_400-18delinsCT...
ENST00000496887.6:c.520-20_520-18delinsCTG	ENSP00000434560.1:n.520-20_520-18delinsCT...
NM_000218.2:c.781-20_781-18delinsCTG , LRG_287t1:c.781-20_781-18delinsCTG	NP_000209.2:n.781-20_781-18delinsCTG
NM_181798.1:c.400-20_400-18delinsCTG , LRG_287t2:c.400-20_400-18delinsCTG	NP_861463.1:n.400-20_400-18delinsCTG
NM_000218.3:c.781-20_781-18delinsCTG MANE Select	NP_000209.2:n.781-20_781-18delinsCTG