Canonical Allele Identifier: CA2790193839

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445173_2445270del , CM000673.2:g.2445173_2445270del	GRCh38
NC_000011.9:g.2466403_2466500del , CM000673.1:g.2466403_2466500del	GRCh37
NC_000011.8:g.2422979_2423076del	NCBI36
NG_008935.1:g.5183_5280del , LRG_287:g.5183_5280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-210_24-113del	ENSP00000434560.2:n.24-210_24-113del
ENST00000646564.2:c.75_172del	ENSP00000495806.2:p.Gly26ProfsTer?
ENST00000155840.12:c.75_172del MANE Select	ENSP00000155840.2:p.Gly26ProfsTer?
ENST00000155840.9:c.75_172del	ENSP00000155840.2:p.Gly26ProfsTer?
ENST00000496887.6:c.24-210_24-113del	ENSP00000434560.1:n.24-210_24-113del
NM_000218.2:c.75_172del , LRG_287t1:c.75_172del	NP_000209.2:p.Gly26ProfsTer?
NM_000218.3:c.75_172del MANE Select	NP_000209.2:p.Gly26ProfsTer?