Canonical Allele Identifier: CA2612011734

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2848170-TGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848173_2848175del , CM000673.2:g.2848173_2848175del	GRCh38
NC_000011.9:g.2869403_2869405del , CM000673.1:g.2869403_2869405del	GRCh37
NC_000011.8:g.2825979_2825981del	NCBI36
NG_008935.1:g.408183_408185del , LRG_287:g.408183_408185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*170_*172del (KCNQ1)	ENSP00000434560.2:n.*170_*172del
ENST00000155840.12:c.*170_*172del (KCNQ1) MANE Select	ENSP00000155840.2:n.*170_*172del
ENST00000335475.6:c.*170_*172del (KCNQ1)	ENSP00000334497.5:n.*170_*172del
ENST00000526095.2:c.*170_*172del (KCNQ1)	ENSP00000494939.1:n.*170_*172del
ENST00000155840.9:c.*170_*172del (KCNQ1)	ENSP00000155840.2:n.*170_*172del
ENST00000335475.5:c.*170_*172del (KCNQ1)	ENSP00000334497.5:n.*170_*172del
ENST00000526095.1:n.708_710del (KCNQ1)
NM_000218.2:c.*170_*172del , LRG_287t1:c.*170_*172del (KCNQ1)	NP_000209.2:n.*170_*172del
NM_181798.1:c.*170_*172del , LRG_287t2:c.*170_*172del (KCNQ1)	NP_861463.1:n.*170_*172del
NR_130721.1:n.778-7731_778-7729del (KCNQ1-AS1)
NM_000218.3:c.*170_*172del (KCNQ1) MANE Select	NP_000209.2:n.*170_*172del