Canonical Allele Identifier: CA1948350266

Gene: KCNQ1 KCNQ1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848978_2848980delinsCGT , CM000673.2:g.2848978_2848980delinsCGT	GRCh38
NC_000011.9:g.2870208_2870210delinsCGT , CM000673.1:g.2870208_2870210delinsCGT	GRCh37
NC_000011.8:g.2826784_2826786delinsCGT	NCBI36
NG_008935.1:g.408988_408990delinsCGT , LRG_287:g.408988_408990delinsCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*975_*977delinsCGT (KCNQ1)	ENSP00000434560.2:n.*975_*977delinsCGT
ENST00000155840.12:c.*975_*977delinsCGT (KCNQ1) MANE Select	ENSP00000155840.2:n.*975_*977delinsCGT
ENST00000335475.6:c.*975_*977delinsCGT (KCNQ1)	ENSP00000334497.5:n.*975_*977delinsCGT
ENST00000155840.9:c.*975_*977delinsCGT (KCNQ1)	ENSP00000155840.2:n.*975_*977delinsCGT
NM_000218.2:c.*975_*977delinsCGT , LRG_287t1:c.*975_*977delinsCGT (KCNQ1)	NP_000209.2:n.*975_*977delinsCGT
NM_181798.1:c.*975_*977delinsCGT , LRG_287t2:c.*975_*977delinsCGT (KCNQ1)	NP_861463.1:n.*975_*977delinsCGT
NR_130721.1:n.778-8538_778-8536delinsACG (KCNQ1-AS1)
NM_000218.3:c.*975_*977delinsCGT (KCNQ1) MANE Select	NP_000209.2:n.*975_*977delinsCGT