Canonical Allele Identifier: CA1948243213

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572914_2572917delinsTGAG , CM000673.2:g.2572914_2572917delinsTGAG	GRCh38
NC_000011.9:g.2594144_2594147delinsTGAG , CM000673.1:g.2594144_2594147delinsTGAG	GRCh37
NC_000011.8:g.2550720_2550723delinsTGAG	NCBI36
NG_008935.1:g.132924_132927delinsTGAG , LRG_287:g.132924_132927delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.588_591delinsTGAG	ENSP00000434560.2:p.Ala196=
ENST00000646564.2:c.478-10521_478-10518delinsTGAG	ENSP00000495806.2:n.478-10521_478-10518delinsTGAG
ENST00000155840.12:c.849_852delinsTGAG MANE Select	ENSP00000155840.2:p.Ala283=
ENST00000335475.6:c.468_471delinsTGAG	ENSP00000334497.5:p.Ala156=
ENST00000646564.1:c.124-10521_124-10518delinsTGAG	ENSP00000495806.1:n.124-10521_124-10518delinsTGAG
ENST00000155840.9:c.849_852delinsTGAG	ENSP00000155840.2:p.Ala283=
ENST00000335475.5:c.468_471delinsTGAG	ENSP00000334497.5:p.Ala156=
NM_000218.2:c.849_852delinsTGAG , LRG_287t1:c.849_852delinsTGAG	NP_000209.2:p.Ala283=
NM_181798.1:c.468_471delinsTGAG , LRG_287t2:c.468_471delinsTGAG	NP_861463.1:p.Ala156=
NM_000218.3:c.849_852delinsTGAG MANE Select	NP_000209.2:p.Ala283=