Canonical Allele Identifier: CA2553778852
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444882_2444901del , CM000673.2:g.2444882_2444901del GRCh38
NC_000011.9:g.2466112_2466131del , CM000673.1:g.2466112_2466131del GRCh37
NC_000011.8:g.2422688_2422707del NCBI36
NG_008935.1:g.4892_4911del , LRG_287:g.4892_4911del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+174_23+193del ENSP00000434560.2:n.23+174_23+193del
ENST00000496887.6:c.23+174_23+193del ENSP00000434560.1:n.23+174_23+193del