Canonical Allele Identifier: CA1948160343
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444911_2444912delinsCG , CM000673.2:g.2444911_2444912delinsCG GRCh38
NC_000011.9:g.2466141_2466142delinsCG , CM000673.1:g.2466141_2466142delinsCG GRCh37
NC_000011.8:g.2422717_2422718delinsCG NCBI36
NG_008935.1:g.4921_4922delinsCG , LRG_287:g.4921_4922delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+203_23+204delinsCG ENSP00000434560.2:n.23+203_23+204delinsCG
ENST00000496887.6:c.23+203_23+204delinsCG ENSP00000434560.1:n.23+203_23+204delinsCG