Canonical Allele Identifier: CA1948224274

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583257_2583259delinsCAT , CM000673.2:g.2583257_2583259delinsCAT	GRCh38
NC_000011.9:g.2604487_2604489delinsCAT , CM000673.1:g.2604487_2604489delinsCAT	GRCh37
NC_000011.8:g.2561063_2561065delinsCAT	NCBI36
NG_008935.1:g.143267_143269delinsCAT , LRG_287:g.143267_143269delinsCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.661-178_661-176delinsCAT	ENSP00000434560.2:n.661-178_661-176delinsCAT
ENST00000646564.2:c.478-178_478-176delinsCAT	ENSP00000495806.2:n.478-178_478-176delinsCAT
ENST00000155840.12:c.922-178_922-176delinsCAT MANE Select	ENSP00000155840.2:n.922-178_922-176delinsCAT
ENST00000335475.6:c.541-178_541-176delinsCAT	ENSP00000334497.5:n.541-178_541-176delinsCAT
ENST00000646564.1:c.124-178_124-176delinsCAT	ENSP00000495806.1:n.124-178_124-176delinsCAT
ENST00000155840.9:c.922-178_922-176delinsCAT	ENSP00000155840.2:n.922-178_922-176delinsCAT
ENST00000335475.5:c.541-178_541-176delinsCAT	ENSP00000334497.5:n.541-178_541-176delinsCAT
NM_000218.2:c.922-178_922-176delinsCAT , LRG_287t1:c.922-178_922-176delinsCAT	NP_000209.2:n.922-178_922-176delinsCAT
NM_181798.1:c.541-178_541-176delinsCAT , LRG_287t2:c.541-178_541-176delinsCAT	NP_861463.1:n.541-178_541-176delinsCAT
NM_000218.3:c.922-178_922-176delinsCAT MANE Select	NP_000209.2:n.922-178_922-176delinsCAT