Canonical Allele Identifier: CA1948310319

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2769144_2769145delinsAG , CM000673.2:g.2769144_2769145delinsAG	GRCh38
NC_000011.9:g.2790374_2790375delinsAG , CM000673.1:g.2790374_2790375delinsAG	GRCh37
NC_000011.8:g.2746950_2746951delinsAG	NCBI36
NG_008935.1:g.329154_329155delinsAG , LRG_287:g.329154_329155delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1233+225_1233+226delinsAG	ENSP00000434560.2:n.1233+225_1233+226delinsAG
ENST00000646564.2:c.1050+225_1050+226delinsAG	ENSP00000495806.2:n.1050+225_1050+226delinsAG
ENST00000155840.12:c.1590+225_1590+226delinsAG MANE Select	ENSP00000155840.2:n.1590+225_1590+226delinsAG
ENST00000335475.6:c.1209+225_1209+226delinsAG	ENSP00000334497.5:n.1209+225_1209+226delinsAG
ENST00000646564.1:c.696+225_696+226delinsAG	ENSP00000495806.1:n.696+225_696+226delinsAG
ENST00000155840.9:c.1590+225_1590+226delinsAG	ENSP00000155840.2:n.1590+225_1590+226delinsAG
ENST00000335475.5:c.1209+225_1209+226delinsAG	ENSP00000334497.5:n.1209+225_1209+226delinsAG
NM_000218.2:c.1590+225_1590+226delinsAG , LRG_287t1:c.1590+225_1590+226delinsAG	NP_000209.2:n.1590+225_1590+226delinsAG
NM_181798.1:c.1209+225_1209+226delinsAG , LRG_287t2:c.1209+225_1209+226delinsAG	NP_861463.1:n.1209+225_1209+226delinsAG
NM_000218.3:c.1590+225_1590+226delinsAG MANE Select	NP_000209.2:n.1590+225_1590+226delinsAG