Canonical Allele Identifier: CA2790207777

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2760384del , CM000673.2:g.2760384del	GRCh38
NC_000011.9:g.2781614del , CM000673.1:g.2781614del	GRCh37
NC_000011.8:g.2738190del	NCBI36
NG_008935.1:g.320394del , LRG_287:g.320394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-8460del	ENSP00000434560.2:n.1158-8460del
ENST00000646564.2:c.975-8460del	ENSP00000495806.2:n.975-8460del
ENST00000155840.12:c.1515-8460del MANE Select	ENSP00000155840.2:n.1515-8460del
ENST00000335475.6:c.1134-8460del	ENSP00000334497.5:n.1134-8460del
ENST00000646564.1:c.621-8460del	ENSP00000495806.1:n.621-8460del
ENST00000155840.9:c.1515-8460del	ENSP00000155840.2:n.1515-8460del
ENST00000335475.5:c.1134-8460del	ENSP00000334497.5:n.1134-8460del
NM_000218.2:c.1515-8460del , LRG_287t1:c.1515-8460del	NP_000209.2:n.1515-8460del
NM_181798.1:c.1134-8460del , LRG_287t2:c.1134-8460del	NP_861463.1:n.1134-8460del
NM_000218.3:c.1515-8460del MANE Select	NP_000209.2:n.1515-8460del