Canonical Allele Identifier: CA2695213186

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583451_2583452delinsAA , CM000673.2:g.2583451_2583452delinsAA	GRCh38
NC_000011.9:g.2604681_2604682delinsAA , CM000673.1:g.2604681_2604682delinsAA	GRCh37
NC_000011.8:g.2561257_2561258delinsAA	NCBI36
NG_008935.1:g.143461_143462delinsAA , LRG_287:g.143461_143462delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.677_678delinsAA	ENSP00000434560.2:p.Ile226Lys
ENST00000646564.2:c.494_495delinsAA	ENSP00000495806.2:p.Ile165Lys
ENST00000155840.12:c.938_939delinsAA MANE Select	ENSP00000155840.2:p.Ile313Lys
ENST00000335475.6:c.557_558delinsAA	ENSP00000334497.5:p.Ile186Lys
ENST00000646564.1:c.140_141delinsAA	ENSP00000495806.1:p.Ile47Lys
ENST00000155840.9:c.938_939delinsAA	ENSP00000155840.2:p.Ile313Lys
ENST00000335475.5:c.557_558delinsAA	ENSP00000334497.5:p.Ile186Lys
NM_000218.2:c.938_939delinsAA , LRG_287t1:c.938_939delinsAA	NP_000209.2:p.Ile313Lys
NM_181798.1:c.557_558delinsAA , LRG_287t2:c.557_558delinsAA	NP_861463.1:p.Ile186Lys
NM_000218.3:c.938_939delinsAA MANE Select	NP_000209.2:p.Ile313Lys