Canonical Allele Identifier: CA2515487714
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445079_2445090del , CM000673.2:g.2445079_2445090del GRCh38
NC_000011.9:g.2466309_2466320del , CM000673.1:g.2466309_2466320del GRCh37
NC_000011.8:g.2422885_2422896del NCBI36
NG_008935.1:g.5089_5100del , LRG_287:g.5089_5100del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-304_24-293del ENSP00000434560.2:n.24-304_24-293del
ENST00000646564.2:c.-20_-9del ENSP00000495806.2:n.-20_-9del
ENST00000155840.12:c.-20_-9del MANE Select ENSP00000155840.2:n.-20_-9del
ENST00000155840.9:c.-20_-9del ENSP00000155840.2:n.-20_-9del
ENST00000496887.6:c.24-304_24-293del ENSP00000434560.1:n.24-304_24-293del
NM_000218.2:c.-20_-9del , LRG_287t1:c.-20_-9del NP_000209.2:n.-20_-9del
NM_000218.3:c.-20_-9del MANE Select NP_000209.2:n.-20_-9del