Canonical Allele Identifier: CA1948239447

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570649_2570652delinsTTCG , CM000673.2:g.2570649_2570652delinsTTCG	GRCh38
NC_000011.9:g.2591879_2591882delinsTTCG , CM000673.1:g.2591879_2591882delinsTTCG	GRCh37
NC_000011.8:g.2548455_2548458delinsTTCG	NCBI36
NG_008935.1:g.130659_130662delinsTTCG , LRG_287:g.130659_130662delinsTTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.238_241delinsTTCG	ENSP00000434560.2:p.Phe80=
ENST00000646564.2:c.478-12786_478-12783delinsTTCG	ENSP00000495806.2:n.478-12786_478-12783delinsTTCG
ENST00000155840.12:c.499_502delinsTTCG MANE Select	ENSP00000155840.2:p.Phe167=
ENST00000335475.6:c.118_121delinsTTCG	ENSP00000334497.5:p.Phe40=
ENST00000646564.1:c.124-12786_124-12783delinsTTCG	ENSP00000495806.1:n.124-12786_124-12783delinsTTCG
ENST00000155840.9:c.499_502delinsTTCG	ENSP00000155840.2:p.Phe167=
ENST00000335475.5:c.118_121delinsTTCG	ENSP00000334497.5:p.Phe40=
ENST00000496887.6:c.238_241delinsTTCG	ENSP00000434560.1:p.Phe80=
NM_000218.2:c.499_502delinsTTCG , LRG_287t1:c.499_502delinsTTCG	NP_000209.2:p.Phe167=
NM_181798.1:c.118_121delinsTTCG , LRG_287t2:c.118_121delinsTTCG	NP_861463.1:p.Phe40=
NM_000218.3:c.499_502delinsTTCG MANE Select	NP_000209.2:p.Phe167=