Canonical Allele Identifier: CA1948349630
Community Standard Title: NM_000218.3(KCNQ1):c.1875_1876delinsCG (p.Pro625=)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847847_2847848delinsCG , CM000673.2:g.2847847_2847848delinsCG GRCh38
NC_000011.9:g.2869077_2869078delinsCG , CM000673.1:g.2869077_2869078delinsCG GRCh37
NC_000011.8:g.2825653_2825654delinsCG NCBI36
NG_008935.1:g.407857_407858delinsCG , LRG_287:g.407857_407858delinsCG

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1875_1876delinsCG (KCNQ1) MANE Select NP_000209.2:p.Pro625=
ENST00000155840.12:c.1875_1876delinsCG (KCNQ1) MANE Select ENSP00000155840.2:p.Pro625=
NM_000218.2:c.1875_1876delinsCG , LRG_287t1:c.1875_1876delinsCG (KCNQ1) NP_000209.2:p.Pro625=
NM_181798.1:c.1494_1495delinsCG , LRG_287t2:c.1494_1495delinsCG (KCNQ1) NP_861463.1:p.Pro498=
NR_130721.1:n.778-7406_778-7405delinsCG (KCNQ1-AS1)
ENST00000155840.9:c.1875_1876delinsCG (KCNQ1) ENSP00000155840.2:p.Pro625=
ENST00000335475.5:c.1494_1495delinsCG (KCNQ1) ENSP00000334497.5:p.Pro498=
ENST00000335475.6:c.1494_1495delinsCG (KCNQ1) ENSP00000334497.5:p.Pro498=
ENST00000496887.7:c.1518_1519delinsCG (KCNQ1) ENSP00000434560.2:p.Pro506=
ENST00000526095.1:n.382_383delinsCG (KCNQ1)
ENST00000526095.2:c.279_280delinsCG (KCNQ1) ENSP00000494939.1:p.Pro93=