Canonical Allele Identifier: CA1948350258

Gene: KCNQ1 KCNQ1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848949_2848953delinsTATTA , CM000673.2:g.2848949_2848953delinsTATTA	GRCh38
NC_000011.9:g.2870179_2870183delinsTATTA , CM000673.1:g.2870179_2870183delinsTATTA	GRCh37
NC_000011.8:g.2826755_2826759delinsTATTA	NCBI36
NG_008935.1:g.408959_408963delinsTATTA , LRG_287:g.408959_408963delinsTATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*946_*950delinsTATTA (KCNQ1)	ENSP00000434560.2:n.*946_*950delinsTATTA
ENST00000155840.12:c.*946_*950delinsTATTA (KCNQ1) MANE Select	ENSP00000155840.2:n.*946_*950delinsTATTA
ENST00000335475.6:c.*946_*950delinsTATTA (KCNQ1)	ENSP00000334497.5:n.*946_*950delinsTATTA
ENST00000155840.9:c.*946_*950delinsTATTA (KCNQ1)	ENSP00000155840.2:n.*946_*950delinsTATTA
NM_000218.2:c.*946_*950delinsTATTA , LRG_287t1:c.*946_*950delinsTATTA (KCNQ1)	NP_000209.2:n.*946_*950delinsTATTA
NM_181798.1:c.*946_*950delinsTATTA , LRG_287t2:c.*946_*950delinsTATTA (KCNQ1)	NP_861463.1:n.*946_*950delinsTATTA
NR_130721.1:n.778-8511_778-8507delinsTAATA (KCNQ1-AS1)
NM_000218.3:c.*946_*950delinsTATTA (KCNQ1) MANE Select	NP_000209.2:n.*946_*950delinsTATTA