Canonical Allele Identifier: CA2695213158

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572895_2572897del , CM000673.2:g.2572895_2572897del	GRCh38
NC_000011.9:g.2594125_2594127del , CM000673.1:g.2594125_2594127del	GRCh37
NC_000011.8:g.2550701_2550703del	NCBI36
NG_008935.1:g.132905_132907del , LRG_287:g.132905_132907del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.569_571del	ENSP00000434560.2:p.Ser190del
ENST00000646564.2:c.478-10540_478-10538del	ENSP00000495806.2:n.478-10540_478-10538del
ENST00000155840.12:c.830_832del MANE Select	ENSP00000155840.2:p.Ser277del
ENST00000335475.6:c.449_451del	ENSP00000334497.5:p.Ser150del
ENST00000646564.1:c.124-10540_124-10538del	ENSP00000495806.1:n.124-10540_124-10538del
ENST00000155840.9:c.830_832del	ENSP00000155840.2:p.Ser277del
ENST00000335475.5:c.449_451del	ENSP00000334497.5:p.Ser150del
ENST00000496887.6:c.569_571del	ENSP00000434560.1:p.Ser190del
NM_000218.2:c.830_832del , LRG_287t1:c.830_832del	NP_000209.2:p.Ser277del
NM_181798.1:c.449_451del , LRG_287t2:c.449_451del	NP_861463.1:p.Ser150del
NM_000218.3:c.830_832del MANE Select	NP_000209.2:p.Ser277del