Canonical Allele Identifier: CA2611999957
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445227-CGGCCCGGCGGGCGGCGCGCTCTACGCGCCCATCGCGCCCGGCGCCCCAGGTCCCGCGCCCCCTGCGTCCCCGGCCGCGCCCGCCGCGCCCCCAGTTGCCTCCGACCTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445234_2445341del , CM000673.2:g.2445234_2445341del GRCh38
NC_000011.9:g.2466464_2466571del , CM000673.1:g.2466464_2466571del GRCh37
NC_000011.8:g.2423040_2423147del NCBI36
NG_008935.1:g.5244_5351del , LRG_287:g.5244_5351del

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-149_24-42del ENSP00000434560.2:n.24-149_24-42del
ENST00000646564.2:c.136_243del ENSP00000495806.2:p.Ala46_Pro81del
ENST00000155840.12:c.136_243del MANE Select ENSP00000155840.2:p.Ala46_Pro81del
ENST00000155840.9:c.136_243del ENSP00000155840.2:p.Ala46_Pro81del
ENST00000496887.6:c.24-149_24-42del ENSP00000434560.1:n.24-149_24-42del
NM_000218.2:c.136_243del , LRG_287t1:c.136_243del NP_000209.2:p.Ala46_Pro81del
NM_000218.3:c.136_243del MANE Select NP_000209.2:p.Ala46_Pro81del
Search 100 bp 5'
Search 100 bp 3'