Canonical Allele Identifier: CA2612004459
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2588916-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588919del , CM000673.2:g.2588919del GRCh38
NC_000011.9:g.2610149del , CM000673.1:g.2610149del GRCh37
NC_000011.8:g.2566725del NCBI36
NG_008935.1:g.148929del , LRG_287:g.148929del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1036+65del ENSP00000434560.2:n.1036+65del
ENST00000646564.2:c.853+65del ENSP00000495806.2:n.853+65del
ENST00000155840.12:c.1393+65del MANE Select ENSP00000155840.2:n.1393+65del
ENST00000335475.6:c.1012+65del ENSP00000334497.5:n.1012+65del
ENST00000646564.1:c.499+65del ENSP00000495806.1:n.499+65del
ENST00000155840.9:c.1393+65del ENSP00000155840.2:n.1393+65del
ENST00000335475.5:c.1012+65del ENSP00000334497.5:n.1012+65del
NM_000218.2:c.1393+65del , LRG_287t1:c.1393+65del NP_000209.2:n.1393+65del
NM_181798.1:c.1012+65del , LRG_287t2:c.1012+65del NP_861463.1:n.1012+65del
NM_000218.3:c.1393+65del MANE Select NP_000209.2:n.1393+65del
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