Canonical Allele Identifier: CA2790204331

Gene: KCNQ1 KCNQ1OT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662075_2662077del , CM000673.2:g.2662075_2662077del	GRCh38
NC_000011.9:g.2683305_2683307del , CM000673.1:g.2683305_2683307del	GRCh37
NC_000011.8:g.2639881_2639883del	NCBI36
NG_008935.1:g.222085_222087del , LRG_287:g.222085_222087del
NG_016178.2:g.42922_42924del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1151_1153del (KCNQ1)	ENSP00000434560.2:p.Ile384_Ser385delinsThr
ENST00000646564.2:c.968_970del (KCNQ1)	ENSP00000495806.2:p.Ile323_Ser324delinsThr
ENST00000155840.12:c.1508_1510del (KCNQ1) MANE Select	ENSP00000155840.2:p.Ile503_Ser504delinsThr
ENST00000335475.6:c.1127_1129del (KCNQ1)	ENSP00000334497.5:p.Ile376_Ser377delinsThr
ENST00000646564.1:c.614_616del (KCNQ1)	ENSP00000495806.1:p.Ile205_Ser206delinsThr
ENST00000155840.9:c.1508_1510del (KCNQ1)	ENSP00000155840.2:p.Ile503_Ser504delinsThr
ENST00000335475.5:c.1127_1129del (KCNQ1)	ENSP00000334497.5:p.Ile376_Ser377delinsThr
NM_000218.2:c.1508_1510del , LRG_287t1:c.1508_1510del (KCNQ1)	NP_000209.2:p.Ile503_Ser504delinsThr
NM_181798.1:c.1127_1129del , LRG_287t2:c.1127_1129del (KCNQ1)	NP_861463.1:p.Ile376_Ser377delinsThr
NR_002728.3:n.37922_37924del (KCNQ1OT1)
NM_000218.3:c.1508_1510del (KCNQ1) MANE Select	NP_000209.2:p.Ile503_Ser504delinsThr