Canonical Allele Identifier: CA1948310302

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769119_2769123delinsATCCT , CM000673.2:g.2769119_2769123delinsATCCT	GRCh38
NC_000011.9:g.2790349_2790353delinsATCCT , CM000673.1:g.2790349_2790353delinsATCCT	GRCh37
NC_000011.8:g.2746925_2746929delinsATCCT	NCBI36
NG_008935.1:g.329129_329133delinsATCCT , LRG_287:g.329129_329133delinsATCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+200_1233+204delinsATCCT	ENSP00000434560.2:n.1233+200_1233+204delinsATCCT
ENST00000646564.2:c.1050+200_1050+204delinsATCCT	ENSP00000495806.2:n.1050+200_1050+204delinsATCCT
ENST00000155840.12:c.1590+200_1590+204delinsATCCT MANE Select	ENSP00000155840.2:n.1590+200_1590+204delinsATCCT
ENST00000335475.6:c.1209+200_1209+204delinsATCCT	ENSP00000334497.5:n.1209+200_1209+204delinsATCCT
ENST00000646564.1:c.696+200_696+204delinsATCCT	ENSP00000495806.1:n.696+200_696+204delinsATCCT
ENST00000155840.9:c.1590+200_1590+204delinsATCCT	ENSP00000155840.2:n.1590+200_1590+204delinsATCCT
ENST00000335475.5:c.1209+200_1209+204delinsATCCT	ENSP00000334497.5:n.1209+200_1209+204delinsATCCT
NM_000218.2:c.1590+200_1590+204delinsATCCT , LRG_287t1:c.1590+200_1590+204delinsATCCT	NP_000209.2:n.1590+200_1590+204delinsATCCT
NM_181798.1:c.1209+200_1209+204delinsATCCT , LRG_287t2:c.1209+200_1209+204delinsATCCT	NP_861463.1:n.1209+200_1209+204delinsATCCT
NM_000218.3:c.1590+200_1590+204delinsATCCT MANE Select	NP_000209.2:n.1590+200_1590+204delinsATCCT