Canonical Allele Identifier: CA658761313
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445311_2445329del , CM000673.2:g.2445311_2445329del GRCh38
NC_000011.9:g.2466541_2466559del , CM000673.1:g.2466541_2466559del GRCh37
NC_000011.8:g.2423117_2423135del NCBI36
NG_008935.1:g.5321_5339del , LRG_287:g.5321_5339del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-72_24-54del ENSP00000434560.2:n.24-72_24-54del
ENST00000646564.2:c.213_231del ENSP00000495806.2:p.Ala72ThrfsTer8
ENST00000155840.12:c.213_231del MANE Select ENSP00000155840.2:p.Ala72ThrfsTer8
ENST00000155840.9:c.213_231del ENSP00000155840.2:p.Ala72ThrfsTer8
ENST00000496887.6:c.24-72_24-54del ENSP00000434560.1:n.24-72_24-54del
NM_000218.2:c.213_231del , LRG_287t1:c.213_231del NP_000209.2:p.Ala72ThrfsTer8
NM_000218.3:c.213_231del MANE Select NP_000209.2:p.Ala72ThrfsTer8
Search 100 bp 5'
Search 100 bp 3'