Canonical Allele Identifier: CA1948160902

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1846018091

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445262_2445263insTCC , CM000673.2:g.2445262_2445263insTCC	GRCh38
NC_000011.9:g.2466492_2466493insTCC , CM000673.1:g.2466492_2466493insTCC	GRCh37
NC_000011.8:g.2423068_2423069insTCC	NCBI36
NG_008935.1:g.5272_5273insTCC , LRG_287:g.5272_5273insTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-121_24-120insTCC	ENSP00000434560.2:n.24-121_24-120insTCC
ENST00000646564.2:c.164_165insTCC	ENSP00000495806.2:p.Ala55_Pro56insPro
ENST00000155840.12:c.164_165insTCC MANE Select	ENSP00000155840.2:p.Ala55_Pro56insPro
ENST00000155840.9:c.164_165insTCC	ENSP00000155840.2:p.Ala55_Pro56insPro
ENST00000496887.6:c.24-121_24-120insTCC	ENSP00000434560.1:n.24-121_24-120insTCC
NM_000218.2:c.164_165insTCC , LRG_287t1:c.164_165insTCC	NP_000209.2:p.Ala55_Pro56insPro
NM_000218.3:c.164_165insTCC MANE Select	NP_000209.2:p.Ala55_Pro56insPro