Canonical Allele Identifier: CA2695213090

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778027_2778029del , CM000673.2:g.2778027_2778029del	GRCh38
NC_000011.9:g.2799257_2799259del , CM000673.1:g.2799257_2799259del	GRCh37
NC_000011.8:g.2755833_2755835del	NCBI36
NG_008935.1:g.338037_338039del , LRG_287:g.338037_338039del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1427_1429del	ENSP00000434560.2:p.Val476del
ENST00000646564.2:c.1244_1246del	ENSP00000495806.2:p.Val415del
ENST00000155840.12:c.1784_1786del MANE Select	ENSP00000155840.2:p.Val595del
ENST00000335475.6:c.1403_1405del	ENSP00000334497.5:p.Val468del
ENST00000526095.2:c.188_190del	ENSP00000494939.1:p.Val63del
ENST00000646564.1:c.890_892del	ENSP00000495806.1:p.Val297del
ENST00000155840.9:c.1784_1786del	ENSP00000155840.2:p.Val595del
ENST00000335475.5:c.1403_1405del	ENSP00000334497.5:p.Val468del
ENST00000526095.1:n.291_293del
NM_000218.2:c.1784_1786del , LRG_287t1:c.1784_1786del	NP_000209.2:p.Val595del
NM_181798.1:c.1403_1405del , LRG_287t2:c.1403_1405del	NP_861463.1:p.Val468del
NM_000218.3:c.1784_1786del MANE Select	NP_000209.2:p.Val595del