Canonical Allele Identifier: CA1948310257

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769055_2769059delinsCCTAT , CM000673.2:g.2769055_2769059delinsCCTAT	GRCh38
NC_000011.9:g.2790285_2790289delinsCCTAT , CM000673.1:g.2790285_2790289delinsCCTAT	GRCh37
NC_000011.8:g.2746861_2746865delinsCCTAT	NCBI36
NG_008935.1:g.329065_329069delinsCCTAT , LRG_287:g.329065_329069delinsCCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+136_1233+140delinsCCTAT	ENSP00000434560.2:n.1233+136_1233+140delinsCCTAT
ENST00000646564.2:c.1050+136_1050+140delinsCCTAT	ENSP00000495806.2:n.1050+136_1050+140delinsCCTAT
ENST00000155840.12:c.1590+136_1590+140delinsCCTAT MANE Select	ENSP00000155840.2:n.1590+136_1590+140delinsCCTAT
ENST00000335475.6:c.1209+136_1209+140delinsCCTAT	ENSP00000334497.5:n.1209+136_1209+140delinsCCTAT
ENST00000646564.1:c.696+136_696+140delinsCCTAT	ENSP00000495806.1:n.696+136_696+140delinsCCTAT
ENST00000155840.9:c.1590+136_1590+140delinsCCTAT	ENSP00000155840.2:n.1590+136_1590+140delinsCCTAT
ENST00000335475.5:c.1209+136_1209+140delinsCCTAT	ENSP00000334497.5:n.1209+136_1209+140delinsCCTAT
NM_000218.2:c.1590+136_1590+140delinsCCTAT , LRG_287t1:c.1590+136_1590+140delinsCCTAT	NP_000209.2:n.1590+136_1590+140delinsCCTAT
NM_181798.1:c.1209+136_1209+140delinsCCTAT , LRG_287t2:c.1209+136_1209+140delinsCCTAT	NP_861463.1:n.1209+136_1209+140delinsCCTAT
NM_000218.3:c.1590+136_1590+140delinsCCTAT MANE Select	NP_000209.2:n.1590+136_1590+140delinsCCTAT