Canonical Allele Identifier: CA216319629

Gene: KCNQ1

Linked Data

• dbSNP Id: rs35879149
• MyVariant Identifiers: chr11:g.2549243_2549244insG (hg19) ; chr11:g.2528013_2528014insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528015dup , CM000673.2:g.2528015dup	GRCh38
NC_000011.9:g.2549245dup , CM000673.1:g.2549245dup	GRCh37
NC_000011.8:g.2505821dup	NCBI36
NG_008935.1:g.88025dup , LRG_287:g.88025dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.213dup	ENSP00000434560.2:p.Met72AspfsTer?
ENST00000646564.2:c.474dup	ENSP00000495806.2:p.Met159AspfsTer?
ENST00000155840.12:c.474dup MANE Select	ENSP00000155840.2:p.Met159AspfsTer?
ENST00000335475.6:c.93dup	ENSP00000334497.5:p.Met32AspfsTer?
ENST00000646564.1:c.120dup	ENSP00000495806.1:p.Met41AspfsTer?
ENST00000155840.9:c.474dup	ENSP00000155840.2:p.Met159AspfsTer?
ENST00000335475.5:c.93dup	ENSP00000334497.5:p.Met32AspfsTer?
ENST00000496887.6:c.213dup	ENSP00000434560.1:p.Met72AspfsTer?
NM_000218.2:c.474dup , LRG_287t1:c.474dup	NP_000209.2:p.Met159AspfsTer?
NM_181798.1:c.93dup , LRG_287t2:c.93dup	NP_861463.1:p.Met32AspfsTer?
NM_000218.3:c.474dup MANE Select	NP_000209.2:p.Met159AspfsTer?