Canonical Allele Identifier: CA1948309987

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768866_2768867delinsAC , CM000673.2:g.2768866_2768867delinsAC	GRCh38
NC_000011.9:g.2790096_2790097delinsAC , CM000673.1:g.2790096_2790097delinsAC	GRCh37
NC_000011.8:g.2746672_2746673delinsAC	NCBI36
NG_008935.1:g.328876_328877delinsAC , LRG_287:g.328876_328877delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1180_1181delinsAC	ENSP00000434560.2:p.Thr394=
ENST00000646564.2:c.997_998delinsAC	ENSP00000495806.2:p.Thr333=
ENST00000155840.12:c.1537_1538delinsAC MANE Select	ENSP00000155840.2:p.Thr513=
ENST00000335475.6:c.1156_1157delinsAC	ENSP00000334497.5:p.Thr386=
ENST00000646564.1:c.643_644delinsAC	ENSP00000495806.1:p.Thr215=
ENST00000155840.9:c.1537_1538delinsAC	ENSP00000155840.2:p.Thr513=
ENST00000335475.5:c.1156_1157delinsAC	ENSP00000334497.5:p.Thr386=
NM_000218.2:c.1537_1538delinsAC , LRG_287t1:c.1537_1538delinsAC	NP_000209.2:p.Thr513=
NM_181798.1:c.1156_1157delinsAC , LRG_287t2:c.1156_1157delinsAC	NP_861463.1:p.Thr386=
NM_000218.3:c.1537_1538delinsAC MANE Select	NP_000209.2:p.Thr513=