Canonical Allele Identifier: CA1948239528

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570662_2570663delinsAC , CM000673.2:g.2570662_2570663delinsAC	GRCh38
NC_000011.9:g.2591892_2591893delinsAC , CM000673.1:g.2591892_2591893delinsAC	GRCh37
NC_000011.8:g.2548468_2548469delinsAC	NCBI36
NG_008935.1:g.130672_130673delinsAC , LRG_287:g.130672_130673delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.251_252delinsAC	ENSP00000434560.2:p.Tyr84=
ENST00000646564.2:c.478-12773_478-12772delinsAC	ENSP00000495806.2:n.478-12773_478-12772delinsAC
ENST00000155840.12:c.512_513delinsAC MANE Select	ENSP00000155840.2:p.Tyr171=
ENST00000335475.6:c.131_132delinsAC	ENSP00000334497.5:p.Tyr44=
ENST00000646564.1:c.124-12773_124-12772delinsAC	ENSP00000495806.1:n.124-12773_124-12772delinsAC
ENST00000155840.9:c.512_513delinsAC	ENSP00000155840.2:p.Tyr171=
ENST00000335475.5:c.131_132delinsAC	ENSP00000334497.5:p.Tyr44=
ENST00000496887.6:c.251_252delinsAC	ENSP00000434560.1:p.Tyr84=
NM_000218.2:c.512_513delinsAC , LRG_287t1:c.512_513delinsAC	NP_000209.2:p.Tyr171=
NM_181798.1:c.131_132delinsAC , LRG_287t2:c.131_132delinsAC	NP_861463.1:p.Tyr44=
NM_000218.3:c.512_513delinsAC MANE Select	NP_000209.2:p.Tyr171=