Canonical Allele Identifier: CA1948314510

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776920_2776923delinsAGAC , CM000673.2:g.2776920_2776923delinsAGAC	GRCh38
NC_000011.9:g.2798150_2798153delinsAGAC , CM000673.1:g.2798150_2798153delinsAGAC	GRCh37
NC_000011.8:g.2754726_2754729delinsAGAC	NCBI36
NG_008935.1:g.336930_336933delinsAGAC , LRG_287:g.336930_336933delinsAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1329-66_1329-63delinsAGAC	ENSP00000434560.2:n.1329-66_1329-63delinsAGAC
ENST00000646564.2:c.1146-66_1146-63delinsAGAC	ENSP00000495806.2:n.1146-66_1146-63delinsAGAC
ENST00000155840.12:c.1686-66_1686-63delinsAGAC MANE Select	ENSP00000155840.2:n.1686-66_1686-63delinsAGAC
ENST00000335475.6:c.1305-66_1305-63delinsAGAC	ENSP00000334497.5:n.1305-66_1305-63delinsAGAC
ENST00000646564.1:c.792-66_792-63delinsAGAC	ENSP00000495806.1:n.792-66_792-63delinsAGAC
ENST00000155840.9:c.1686-66_1686-63delinsAGAC	ENSP00000155840.2:n.1686-66_1686-63delinsAGAC
ENST00000335475.5:c.1305-66_1305-63delinsAGAC	ENSP00000334497.5:n.1305-66_1305-63delinsAGAC
NM_000218.2:c.1686-66_1686-63delinsAGAC , LRG_287t1:c.1686-66_1686-63delinsAGAC	NP_000209.2:n.1686-66_1686-63delinsAGAC
NM_181798.1:c.1305-66_1305-63delinsAGAC , LRG_287t2:c.1305-66_1305-63delinsAGAC	NP_861463.1:n.1305-66_1305-63delinsAGAC
NM_000218.3:c.1686-66_1686-63delinsAGAC MANE Select	NP_000209.2:n.1686-66_1686-63delinsAGAC