Canonical Allele Identifier: CA658761327
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572987del , CM000673.2:g.2572987del GRCh38
NC_000011.9:g.2594217del , CM000673.1:g.2594217del GRCh37
NC_000011.8:g.2550793del NCBI36
NG_008935.1:g.132997del , LRG_287:g.132997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.660+1del
ENST00000646564.2:c.478-10448del ENSP00000495806.2:n.478-10448del
ENST00000155840.12:c.921+1del
ENST00000335475.6:c.540+1del
ENST00000646564.1:c.124-10448del ENSP00000495806.1:n.124-10448del
ENST00000155840.9:c.921+1del
ENST00000335475.5:c.540+1del
NM_000218.2:c.921+1del , LRG_287t1:c.921+1del
NM_181798.1:c.540+1del , LRG_287t2:c.540+1del
NM_000218.3:c.921+1del