Canonical Allele Identifier: CA3002922867

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583367_2583368del , CM000673.2:g.2583367_2583368del	GRCh38
NC_000011.9:g.2604597_2604598del , CM000673.1:g.2604597_2604598del	GRCh37
NC_000011.8:g.2561173_2561174del	NCBI36
NG_008935.1:g.143377_143378del , LRG_287:g.143377_143378del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.661-68_661-67del	ENSP00000434560.2:n.661-68_661-67del
ENST00000646564.2:c.478-68_478-67del	ENSP00000495806.2:n.478-68_478-67del
ENST00000155840.12:c.922-68_922-67del MANE Select	ENSP00000155840.2:n.922-68_922-67del
ENST00000335475.6:c.541-68_541-67del	ENSP00000334497.5:n.541-68_541-67del
ENST00000646564.1:c.124-68_124-67del	ENSP00000495806.1:n.124-68_124-67del
ENST00000155840.9:c.922-68_922-67del	ENSP00000155840.2:n.922-68_922-67del
ENST00000335475.5:c.541-68_541-67del	ENSP00000334497.5:n.541-68_541-67del
NM_000218.2:c.922-68_922-67del , LRG_287t1:c.922-68_922-67del	NP_000209.2:n.922-68_922-67del
NM_181798.1:c.541-68_541-67del , LRG_287t2:c.541-68_541-67del	NP_861463.1:n.541-68_541-67del
NM_000218.3:c.922-68_922-67del MANE Select	NP_000209.2:n.922-68_922-67del