Canonical Allele Identifier: CA1948314102

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776097_2776098delinsGC , CM000673.2:g.2776097_2776098delinsGC	GRCh38
NC_000011.9:g.2797327_2797328delinsGC , CM000673.1:g.2797327_2797328delinsGC	GRCh37
NC_000011.8:g.2753903_2753904delinsGC	NCBI36
NG_008935.1:g.336107_336108delinsGC , LRG_287:g.336107_336108delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1328+43_1328+44delinsGC	ENSP00000434560.2:n.1328+43_1328+44delinsGC
ENST00000646564.2:c.1145+43_1145+44delinsGC	ENSP00000495806.2:n.1145+43_1145+44delinsGC
ENST00000155840.12:c.1685+43_1685+44delinsGC MANE Select	ENSP00000155840.2:n.1685+43_1685+44delinsGC
ENST00000335475.6:c.1304+43_1304+44delinsGC	ENSP00000334497.5:n.1304+43_1304+44delinsGC
ENST00000646564.1:c.791+43_791+44delinsGC	ENSP00000495806.1:n.791+43_791+44delinsGC
ENST00000155840.9:c.1685+43_1685+44delinsGC	ENSP00000155840.2:n.1685+43_1685+44delinsGC
ENST00000335475.5:c.1304+43_1304+44delinsGC	ENSP00000334497.5:n.1304+43_1304+44delinsGC
NM_000218.2:c.1685+43_1685+44delinsGC , LRG_287t1:c.1685+43_1685+44delinsGC	NP_000209.2:n.1685+43_1685+44delinsGC
NM_181798.1:c.1304+43_1304+44delinsGC , LRG_287t2:c.1304+43_1304+44delinsGC	NP_861463.1:n.1304+43_1304+44delinsGC
NM_000218.3:c.1685+43_1685+44delinsGC MANE Select	NP_000209.2:n.1685+43_1685+44delinsGC