Canonical Allele Identifier: CA006530
Community Standard Title: NM_000218.3(KCNQ1):c.1876_1893del (p.Gly626_Pro631del)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847848_2847865del , CM000673.2:g.2847848_2847865del GRCh38
NC_000011.9:g.2869078_2869095del , CM000673.1:g.2869078_2869095del GRCh37
NC_000011.8:g.2825654_2825671del NCBI36
NG_008935.1:g.407858_407875del , LRG_287:g.407858_407875del

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1876_1893del (KCNQ1) MANE Select NP_000209.2:p.Gly626_Pro631del
ENST00000155840.12:c.1876_1893del (KCNQ1) MANE Select ENSP00000155840.2:p.Gly626_Pro631del
NM_000218.2:c.1876_1893del , LRG_287t1:c.1876_1893del (KCNQ1) NP_000209.2:p.Gly626_Pro631del
NM_181798.1:c.1495_1512del , LRG_287t2:c.1495_1512del (KCNQ1) NP_861463.1:p.Gly499_Pro504del
NR_130721.1:n.778-7418_778-7401del (KCNQ1-AS1)
ENST00000155840.9:c.1876_1893del (KCNQ1) ENSP00000155840.2:p.Gly626_Pro631del
ENST00000335475.5:c.1495_1512del (KCNQ1) ENSP00000334497.5:p.Gly499_Pro504del
ENST00000335475.6:c.1495_1512del (KCNQ1) ENSP00000334497.5:p.Gly499_Pro504del
ENST00000496887.7:c.1519_1536del (KCNQ1) ENSP00000434560.2:p.Gly507_Pro512del
ENST00000526095.1:n.383_400del (KCNQ1)
ENST00000526095.2:c.280_297del (KCNQ1) ENSP00000494939.1:p.Gly94_Pro99del
Search 100 bp 5'
Search 100 bp 3'