Canonical Allele Identifier: CA3002923261

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585170del , CM000673.2:g.2585170del	GRCh38
NC_000011.9:g.2606400del , CM000673.1:g.2606400del	GRCh37
NC_000011.8:g.2562976del	NCBI36
NG_008935.1:g.145180del , LRG_287:g.145180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1625del	ENSP00000434560.2:n.771+1625del
ENST00000646564.2:c.588+1625del	ENSP00000495806.2:n.588+1625del
ENST00000155840.12:c.1033-42del MANE Select	ENSP00000155840.2:n.1033-42del
ENST00000335475.6:c.652-42del	ENSP00000334497.5:n.652-42del
ENST00000646564.1:c.234+1625del	ENSP00000495806.1:n.234+1625del
ENST00000155840.9:c.1033-42del	ENSP00000155840.2:n.1033-42del
ENST00000335475.5:c.652-42del	ENSP00000334497.5:n.652-42del
NM_000218.2:c.1033-42del , LRG_287t1:c.1033-42del	NP_000209.2:n.1033-42del
NM_181798.1:c.652-42del , LRG_287t2:c.652-42del	NP_861463.1:n.652-42del
NM_000218.3:c.1033-42del MANE Select	NP_000209.2:n.1033-42del