Canonical Allele Identifier: CA934459766
Community Standard Title: NM_000218.3(KCNQ1):c.604+3_604+6dup
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570757_2570760dup , CM000673.2:g.2570757_2570760dup GRCh38
NC_000011.9:g.2591987_2591990dup , CM000673.1:g.2591987_2591990dup GRCh37
NC_000011.8:g.2548563_2548566dup NCBI36
NG_008935.1:g.130767_130770dup , LRG_287:g.130767_130770dup

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.604+3_604+6dup MANE Select NP_000209.2:n.604+3_604+6dup
ENST00000155840.12:c.604+3_604+6dup MANE Select ENSP00000155840.2:n.604+3_604+6dup
NM_000218.2:c.604+3_604+6dup , LRG_287t1:c.604+3_604+6dup NP_000209.2:n.604+3_604+6dup
NM_181798.1:c.223+3_223+6dup , LRG_287t2:c.223+3_223+6dup NP_861463.1:n.223+3_223+6dup
ENST00000155840.9:c.604+3_604+6dup ENSP00000155840.2:n.604+3_604+6dup
ENST00000335475.5:c.223+3_223+6dup ENSP00000334497.5:n.223+3_223+6dup
ENST00000335475.6:c.223+3_223+6dup ENSP00000334497.5:n.223+3_223+6dup
ENST00000496887.6:c.343+3_343+6dup ENSP00000434560.1:n.343+3_343+6dup
ENST00000496887.7:c.343+3_343+6dup ENSP00000434560.2:n.343+3_343+6dup
ENST00000646564.1:c.124-12678_124-12675dup ENSP00000495806.1:n.124-12678_124-12675dup
ENST00000646564.2:c.478-12678_478-12675dup ENSP00000495806.2:n.478-12678_478-12675dup
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