Canonical Allele Identifier: CA2573053485
Community Standard Title: NM_000218.3(KCNQ1):c.1863_1877dup (p.Gly622_Gly626dup)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847835_2847849dup , CM000673.2:g.2847835_2847849dup GRCh38
NC_000011.9:g.2869065_2869079dup , CM000673.1:g.2869065_2869079dup GRCh37
NC_000011.8:g.2825641_2825655dup NCBI36
NG_008935.1:g.407845_407859dup , LRG_287:g.407845_407859dup

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1863_1877dup (KCNQ1) MANE Select NP_000209.2:p.Gly626_Ser627insGlySerThrProGly
ENST00000155840.12:c.1863_1877dup (KCNQ1) MANE Select ENSP00000155840.2:p.Gly626_Ser627insGlySerThrProGly
NM_000218.2:c.1863_1877dup , LRG_287t1:c.1863_1877dup (KCNQ1) NP_000209.2:p.Gly626_Ser627insGlySerThrProGly
NM_181798.1:c.1482_1496dup , LRG_287t2:c.1482_1496dup (KCNQ1) NP_861463.1:p.Gly499_Ser500insGlySerThrProGly
NR_130721.1:n.778-7404_778-7390dup (KCNQ1-AS1)
ENST00000155840.9:c.1863_1877dup (KCNQ1) ENSP00000155840.2:p.Gly626_Ser627insGlySerThrProGly
ENST00000335475.5:c.1482_1496dup (KCNQ1) ENSP00000334497.5:p.Gly499_Ser500insGlySerThrProGly
ENST00000335475.6:c.1482_1496dup (KCNQ1) ENSP00000334497.5:p.Gly499_Ser500insGlySerThrProGly
ENST00000496887.7:c.1506_1520dup (KCNQ1) ENSP00000434560.2:p.Gly507_Ser508insGlySerThrProGly
ENST00000526095.1:n.370_384dup (KCNQ1)
ENST00000526095.2:c.267_281dup (KCNQ1) ENSP00000494939.1:p.Gly94_Ser95insGlySerThrProGly