Canonical Allele Identifier: CA2840405393

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570771del , CM000673.2:g.2570771del	GRCh38
NC_000011.9:g.2592001del , CM000673.1:g.2592001del	GRCh37
NC_000011.8:g.2548577del	NCBI36
NG_008935.1:g.130781del , LRG_287:g.130781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.343+17del	ENSP00000434560.2:n.343+17del
ENST00000646564.2:c.478-12664del	ENSP00000495806.2:n.478-12664del
ENST00000155840.12:c.604+17del MANE Select	ENSP00000155840.2:n.604+17del
ENST00000335475.6:c.223+17del	ENSP00000334497.5:n.223+17del
ENST00000646564.1:c.124-12664del	ENSP00000495806.1:n.124-12664del
ENST00000155840.9:c.604+17del	ENSP00000155840.2:n.604+17del
ENST00000335475.5:c.223+17del	ENSP00000334497.5:n.223+17del
ENST00000496887.6:c.343+17del	ENSP00000434560.1:n.343+17del
NM_000218.2:c.604+17del , LRG_287t1:c.604+17del	NP_000209.2:n.604+17del
NM_181798.1:c.223+17del , LRG_287t2:c.223+17del	NP_861463.1:n.223+17del
NM_000218.3:c.604+17del MANE Select	NP_000209.2:n.604+17del