Canonical Allele Identifier: CA658655516
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570754_2570755insATC , CM000673.2:g.2570754_2570755insATC GRCh38
NC_000011.9:g.2591984_2591985insATC , CM000673.1:g.2591984_2591985insATC GRCh37
NC_000011.8:g.2548560_2548561insATC NCBI36
NG_008935.1:g.130764_130765insATC , LRG_287:g.130764_130765insATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.343_343+1insATC ENSP00000434560.2:n.343_343+1insATC
ENST00000646564.2:c.478-12681_478-12680insATC ENSP00000495806.2:n.478-12681_478-12680insATC
ENST00000155840.12:c.604_604+1insATC MANE Select ENSP00000155840.2:n.604_604+1insATC
ENST00000335475.6:c.223_223+1insATC ENSP00000334497.5:n.223_223+1insATC
ENST00000646564.1:c.124-12681_124-12680insATC ENSP00000495806.1:n.124-12681_124-12680insATC
ENST00000155840.9:c.604_604+1insATC ENSP00000155840.2:n.604_604+1insATC
ENST00000335475.5:c.223_223+1insATC ENSP00000334497.5:n.223_223+1insATC
ENST00000496887.6:c.343_343+1insATC ENSP00000434560.1:n.343_343+1insATC
NM_000218.2:c.604_604+1insATC , LRG_287t1:c.604_604+1insATC NP_000209.2:n.604_604+1insATC
NM_181798.1:c.223_223+1insATC , LRG_287t2:c.223_223+1insATC NP_861463.1:n.223_223+1insATC
NM_000218.3:c.604_604+1insATC MANE Select NP_000209.2:n.604_604+1insATC