Canonical Allele Identifier: CA472466439
Community Standard Title: NM_000218.3(KCNQ1):c.1875del (p.Gly626AlafsTer?)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847847del , CM000673.2:g.2847847del GRCh38
NC_000011.9:g.2869077del , CM000673.1:g.2869077del GRCh37
NC_000011.8:g.2825653del NCBI36
NG_008935.1:g.407857del , LRG_287:g.407857del

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1875del (KCNQ1) MANE Select NP_000209.2:p.Gly626AlafsTer?
ENST00000155840.12:c.1875del (KCNQ1) MANE Select ENSP00000155840.2:p.Gly626AlafsTer?
NM_000218.2:c.1875del , LRG_287t1:c.1875del (KCNQ1) NP_000209.2:p.Gly626AlafsTer?
NM_181798.1:c.1494del , LRG_287t2:c.1494del (KCNQ1) NP_861463.1:p.Gly499AlafsTer?
NR_130721.1:n.778-7401del (KCNQ1-AS1)
ENST00000155840.9:c.1875del (KCNQ1) ENSP00000155840.2:p.Gly626AlafsTer?
ENST00000335475.5:c.1494del (KCNQ1) ENSP00000334497.5:p.Gly499AlafsTer?
ENST00000335475.6:c.1494del (KCNQ1) ENSP00000334497.5:p.Gly499AlafsTer?
ENST00000496887.7:c.1518del (KCNQ1) ENSP00000434560.2:p.Gly507AlafsTer?
ENST00000526095.1:n.382del (KCNQ1)
ENST00000526095.2:c.279del (KCNQ1) ENSP00000494939.1:p.Gly94AlafsTer?
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