Canonical Allele Identifier: CA1948292176
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2731299_2731300delinsAC , CM000673.2:g.2731299_2731300delinsAC GRCh38
NC_000011.9:g.2752529_2752530delinsAC , CM000673.1:g.2752529_2752530delinsAC GRCh37
NC_000011.8:g.2709105_2709106delinsAC NCBI36
NG_008935.1:g.291309_291310delinsAC , LRG_287:g.291309_291310delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1158-37545_1158-37544delinsAC ENSP00000434560.2:n.1158-37545_1158-37544delinsAC
ENST00000646564.2:c.975-37545_975-37544delinsAC ENSP00000495806.2:n.975-37545_975-37544delinsAC
ENST00000155840.12:c.1515-37545_1515-37544delinsAC MANE Select ENSP00000155840.2:n.1515-37545_1515-37544delinsAC
ENST00000335475.6:c.1134-37545_1134-37544delinsAC ENSP00000334497.5:n.1134-37545_1134-37544delinsAC
ENST00000646564.1:c.621-37545_621-37544delinsAC ENSP00000495806.1:n.621-37545_621-37544delinsAC
ENST00000155840.9:c.1515-37545_1515-37544delinsAC ENSP00000155840.2:n.1515-37545_1515-37544delinsAC
ENST00000335475.5:c.1134-37545_1134-37544delinsAC ENSP00000334497.5:n.1134-37545_1134-37544delinsAC
NM_000218.2:c.1515-37545_1515-37544delinsAC , LRG_287t1:c.1515-37545_1515-37544delinsAC NP_000209.2:n.1515-37545_1515-37544delinsAC
NM_181798.1:c.1134-37545_1134-37544delinsAC , LRG_287t2:c.1134-37545_1134-37544delinsAC NP_861463.1:n.1134-37545_1134-37544delinsAC
NM_000218.3:c.1515-37545_1515-37544delinsAC MANE Select NP_000209.2:n.1515-37545_1515-37544delinsAC