Canonical Allele Identifier: CA2612012190

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2848987-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848990_2848991del , CM000673.2:g.2848990_2848991del	GRCh38
NC_000011.9:g.2870220_2870221del , CM000673.1:g.2870220_2870221del	GRCh37
NC_000011.8:g.2826796_2826797del	NCBI36
NG_008935.1:g.409000_409001del , LRG_287:g.409000_409001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*987_*988del (KCNQ1)	ENSP00000434560.2:n.*987_*988del
ENST00000155840.12:c.*987_*988del (KCNQ1) MANE Select	ENSP00000155840.2:n.*987_*988del
ENST00000335475.6:c.*987_*988del (KCNQ1)	ENSP00000334497.5:n.*987_*988del
ENST00000155840.9:c.*987_*988del (KCNQ1)	ENSP00000155840.2:n.*987_*988del
NM_000218.2:c.*987_*988del , LRG_287t1:c.*987_*988del (KCNQ1)	NP_000209.2:n.*987_*988del
NM_181798.1:c.*987_*988del , LRG_287t2:c.*987_*988del (KCNQ1)	NP_861463.1:n.*987_*988del
NR_130721.1:n.778-8547_778-8546del (KCNQ1-AS1)
NM_000218.3:c.*987_*988del (KCNQ1) MANE Select	NP_000209.2:n.*987_*988del