Canonical Allele Identifier: CA2612009048

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2776107-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776111del , CM000673.2:g.2776111del	GRCh38
NC_000011.9:g.2797341del , CM000673.1:g.2797341del	GRCh37
NC_000011.8:g.2753917del	NCBI36
NG_008935.1:g.336121del , LRG_287:g.336121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1328+57del	ENSP00000434560.2:n.1328+57del
ENST00000646564.2:c.1145+57del	ENSP00000495806.2:n.1145+57del
ENST00000155840.12:c.1685+57del MANE Select	ENSP00000155840.2:n.1685+57del
ENST00000335475.6:c.1304+57del	ENSP00000334497.5:n.1304+57del
ENST00000646564.1:c.791+57del	ENSP00000495806.1:n.791+57del
ENST00000155840.9:c.1685+57del	ENSP00000155840.2:n.1685+57del
ENST00000335475.5:c.1304+57del	ENSP00000334497.5:n.1304+57del
NM_000218.2:c.1685+57del , LRG_287t1:c.1685+57del	NP_000209.2:n.1685+57del
NM_181798.1:c.1304+57del , LRG_287t2:c.1304+57del	NP_861463.1:n.1304+57del
NM_000218.3:c.1685+57del MANE Select	NP_000209.2:n.1685+57del