Canonical Allele Identifier: CA2695213183
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445432_2445434dup , CM000673.2:g.2445432_2445434dup GRCh38
NC_000011.9:g.2466662_2466664dup , CM000673.1:g.2466662_2466664dup GRCh37
NC_000011.8:g.2423238_2423240dup NCBI36
NG_008935.1:g.5442_5444dup , LRG_287:g.5442_5444dup

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.73_75dup ENSP00000434560.2:p.Asn25_Phe26insAsn
ENST00000646564.2:c.334_336dup ENSP00000495806.2:p.Asn112_Phe113insAsn
ENST00000155840.12:c.334_336dup MANE Select ENSP00000155840.2:p.Asn112_Phe113insAsn
ENST00000155840.9:c.334_336dup ENSP00000155840.2:p.Asn112_Phe113insAsn
ENST00000345015.4:n.111_113dup
ENST00000496887.6:c.73_75dup ENSP00000434560.1:p.Asn25_Phe26insAsn
NM_000218.2:c.334_336dup , LRG_287t1:c.334_336dup NP_000209.2:p.Asn112_Phe113insAsn
NM_000218.3:c.334_336dup MANE Select NP_000209.2:p.Asn112_Phe113insAsn
Search 100 bp 5'
Search 100 bp 3'