Canonical Allele Identifier: CA2574728196

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583593del , CM000673.2:g.2583593del	GRCh38
NC_000011.9:g.2604823del , CM000673.1:g.2604823del	GRCh37
NC_000011.8:g.2561399del	NCBI36
NG_008935.1:g.143603del , LRG_287:g.143603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+48del	ENSP00000434560.2:n.771+48del
ENST00000646564.2:c.588+48del	ENSP00000495806.2:n.588+48del
ENST00000155840.12:c.1032+48del MANE Select	ENSP00000155840.2:n.1032+48del
ENST00000335475.6:c.651+48del	ENSP00000334497.5:n.651+48del
ENST00000646564.1:c.234+48del	ENSP00000495806.1:n.234+48del
ENST00000155840.9:c.1032+48del	ENSP00000155840.2:n.1032+48del
ENST00000335475.5:c.651+48del	ENSP00000334497.5:n.651+48del
NM_000218.2:c.1032+48del , LRG_287t1:c.1032+48del	NP_000209.2:n.1032+48del
NM_181798.1:c.651+48del , LRG_287t2:c.651+48del	NP_861463.1:n.651+48del
NM_000218.3:c.1032+48del MANE Select	NP_000209.2:n.1032+48del