Canonical Allele Identifier: CA037778

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570586_2570591del , CM000673.2:g.2570586_2570591del	GRCh38
NC_000011.9:g.2591816_2591821del , CM000673.1:g.2591816_2591821del	GRCh37
NC_000011.8:g.2548392_2548397del	NCBI36
NG_008935.1:g.130596_130601del , LRG_287:g.130596_130601del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.217-42_217-37del	ENSP00000434560.2:n.217-42_217-37del
ENST00000646564.2:c.478-12849_478-12844del	ENSP00000495806.2:n.478-12849_478-12844del
ENST00000155840.12:c.478-42_478-37del MANE Select	ENSP00000155840.2:n.478-42_478-37del
ENST00000335475.6:c.97-42_97-37del	ENSP00000334497.5:n.97-42_97-37del
ENST00000646564.1:c.124-12849_124-12844del	ENSP00000495806.1:n.124-12849_124-12844del
ENST00000155840.9:c.478-42_478-37del	ENSP00000155840.2:n.478-42_478-37del
ENST00000335475.5:c.97-42_97-37del	ENSP00000334497.5:n.97-42_97-37del
ENST00000496887.6:c.217-42_217-37del	ENSP00000434560.1:n.217-42_217-37del
NM_000218.2:c.478-42_478-37del , LRG_287t1:c.478-42_478-37del	NP_000209.2:n.478-42_478-37del
NM_181798.1:c.97-42_97-37del , LRG_287t2:c.97-42_97-37del	NP_861463.1:n.97-42_97-37del
NM_000218.3:c.478-42_478-37del MANE Select	NP_000209.2:n.478-42_478-37del