Canonical Allele Identifier: CA1948273248

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2702436_2702443delinsGTCCACCC , CM000673.2:g.2702436_2702443delinsGTCCACCC	GRCh38
NC_000011.9:g.2723666_2723673delinsGTCCACCC , CM000673.1:g.2723666_2723673delinsGTCCACCC	GRCh37
NC_000011.8:g.2680242_2680249delinsGTCCACCC	NCBI36
NG_008935.1:g.262446_262453delinsGTCCACCC , LRG_287:g.262446_262453delinsGTCCACCC
NG_016178.2:g.2556_2563delinsGGGTGGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1157+40355_1157+40362delinsGTCCACCC	ENSP00000434560.2:n.1157+40355_1157+40362...
ENST00000646564.2:c.974+40355_974+40362delinsGTCCACCC	ENSP00000495806.2:n.974+40355_974+40362de...
ENST00000155840.12:c.1514+40355_1514+40362delinsGTCCACCC MANE Select	ENSP00000155840.2:n.1514+40355_1514+40362...
ENST00000335475.6:c.1133+40355_1133+40362delinsGTCCACCC	ENSP00000334497.5:n.1133+40355_1133+40362...
ENST00000646564.1:c.620+40355_620+40362delinsGTCCACCC	ENSP00000495806.1:n.620+40355_620+40362de...
ENST00000155840.9:c.1514+40355_1514+40362delinsGTCCACCC	ENSP00000155840.2:n.1514+40355_1514+40362...
ENST00000335475.5:c.1133+40355_1133+40362delinsGTCCACCC	ENSP00000334497.5:n.1133+40355_1133+40362...
NM_000218.2:c.1514+40355_1514+40362delinsGTCCACCC , LRG_287t1:c.1514+40355_1514+40362delinsGTCCACCC	NP_000209.2:n.1514+40355_1514+40362delins...
NM_181798.1:c.1133+40355_1133+40362delinsGTCCACCC , LRG_287t2:c.1133+40355_1133+40362delinsGTCCACCC	NP_861463.1:n.1133+40355_1133+40362delins...
NM_000218.3:c.1514+40355_1514+40362delinsGTCCACCC MANE Select	NP_000209.2:n.1514+40355_1514+40362delins...