Canonical Allele Identifier: CA1948310281

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769089_2769090delinsAC , CM000673.2:g.2769089_2769090delinsAC	GRCh38
NC_000011.9:g.2790319_2790320delinsAC , CM000673.1:g.2790319_2790320delinsAC	GRCh37
NC_000011.8:g.2746895_2746896delinsAC	NCBI36
NG_008935.1:g.329099_329100delinsAC , LRG_287:g.329099_329100delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+170_1233+171delinsAC	ENSP00000434560.2:n.1233+170_1233+171delinsAC
ENST00000646564.2:c.1050+170_1050+171delinsAC	ENSP00000495806.2:n.1050+170_1050+171delinsAC
ENST00000155840.12:c.1590+170_1590+171delinsAC MANE Select	ENSP00000155840.2:n.1590+170_1590+171delinsAC
ENST00000335475.6:c.1209+170_1209+171delinsAC	ENSP00000334497.5:n.1209+170_1209+171delinsAC
ENST00000646564.1:c.696+170_696+171delinsAC	ENSP00000495806.1:n.696+170_696+171delinsAC
ENST00000155840.9:c.1590+170_1590+171delinsAC	ENSP00000155840.2:n.1590+170_1590+171delinsAC
ENST00000335475.5:c.1209+170_1209+171delinsAC	ENSP00000334497.5:n.1209+170_1209+171delinsAC
NM_000218.2:c.1590+170_1590+171delinsAC , LRG_287t1:c.1590+170_1590+171delinsAC	NP_000209.2:n.1590+170_1590+171delinsAC
NM_181798.1:c.1209+170_1209+171delinsAC , LRG_287t2:c.1209+170_1209+171delinsAC	NP_861463.1:n.1209+170_1209+171delinsAC
NM_000218.3:c.1590+170_1590+171delinsAC MANE Select	NP_000209.2:n.1590+170_1590+171delinsAC