Canonical Allele Identifier: CA1948315122

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778025_2778026delinsAG , CM000673.2:g.2778025_2778026delinsAG	GRCh38
NC_000011.9:g.2799255_2799256delinsAG , CM000673.1:g.2799255_2799256delinsAG	GRCh37
NC_000011.8:g.2755831_2755832delinsAG	NCBI36
NG_008935.1:g.338035_338036delinsAG , LRG_287:g.338035_338036delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1425_1426delinsAG	ENSP00000434560.2:p.Arg475=
ENST00000646564.2:c.1242_1243delinsAG	ENSP00000495806.2:p.Arg414=
ENST00000155840.12:c.1782_1783delinsAG MANE Select	ENSP00000155840.2:p.Arg594=
ENST00000335475.6:c.1401_1402delinsAG	ENSP00000334497.5:p.Arg467=
ENST00000526095.2:c.186_187delinsAG	ENSP00000494939.1:p.Arg62=
ENST00000646564.1:c.888_889delinsAG	ENSP00000495806.1:p.Arg296=
ENST00000155840.9:c.1782_1783delinsAG	ENSP00000155840.2:p.Arg594=
ENST00000335475.5:c.1401_1402delinsAG	ENSP00000334497.5:p.Arg467=
ENST00000526095.1:n.289_290delinsAG
NM_000218.2:c.1782_1783delinsAG , LRG_287t1:c.1782_1783delinsAG	NP_000209.2:p.Arg594=
NM_181798.1:c.1401_1402delinsAG , LRG_287t2:c.1401_1402delinsAG	NP_861463.1:p.Arg467=
NM_000218.3:c.1782_1783delinsAG MANE Select	NP_000209.2:p.Arg594=