Canonical Allele Identifier: CA216327772

Gene: KCNQ1

Linked Data

• dbSNP Id: rs144977523
• MyVariant Identifiers: chr11:g.2605017_2605020del (hg19) ; chr11:g.2583787_2583790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583789_2583792del , CM000673.2:g.2583789_2583792del	GRCh38
NC_000011.9:g.2605019_2605022del , CM000673.1:g.2605019_2605022del	GRCh37
NC_000011.8:g.2561595_2561598del	NCBI36
NG_008935.1:g.143799_143802del , LRG_287:g.143799_143802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+244_771+247del	ENSP00000434560.2:n.771+244_771+247del
ENST00000646564.2:c.588+244_588+247del	ENSP00000495806.2:n.588+244_588+247del
ENST00000155840.12:c.1032+244_1032+247del MANE Select	ENSP00000155840.2:n.1032+244_1032+247del
ENST00000335475.6:c.651+244_651+247del	ENSP00000334497.5:n.651+244_651+247del
ENST00000646564.1:c.234+244_234+247del	ENSP00000495806.1:n.234+244_234+247del
ENST00000155840.9:c.1032+244_1032+247del	ENSP00000155840.2:n.1032+244_1032+247del
ENST00000335475.5:c.651+244_651+247del	ENSP00000334497.5:n.651+244_651+247del
NM_000218.2:c.1032+244_1032+247del , LRG_287t1:c.1032+244_1032+247del	NP_000209.2:n.1032+244_1032+247del
NM_181798.1:c.651+244_651+247del , LRG_287t2:c.651+244_651+247del	NP_861463.1:n.651+244_651+247del
NM_000218.3:c.1032+244_1032+247del MANE Select	NP_000209.2:n.1032+244_1032+247del