Canonical Allele Identifier: CA1948224489

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583409_2583416delinsGCTGACCA , CM000673.2:g.2583409_2583416delinsGCTGACCA	GRCh38
NC_000011.9:g.2604639_2604646delinsGCTGACCA , CM000673.1:g.2604639_2604646delinsGCTGACCA	GRCh37
NC_000011.8:g.2561215_2561222delinsGCTGACCA	NCBI36
NG_008935.1:g.143419_143426delinsGCTGACCA , LRG_287:g.143419_143426delinsGCTGACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.661-26_661-19delinsGCTGACCA	ENSP00000434560.2:n.661-26_661-19delinsGCTGACCA
ENST00000646564.2:c.478-26_478-19delinsGCTGACCA	ENSP00000495806.2:n.478-26_478-19delinsGCTGACCA
ENST00000155840.12:c.922-26_922-19delinsGCTGACCA MANE Select	ENSP00000155840.2:n.922-26_922-19delinsGCTGACCA
ENST00000335475.6:c.541-26_541-19delinsGCTGACCA	ENSP00000334497.5:n.541-26_541-19delinsGCTGACCA
ENST00000646564.1:c.124-26_124-19delinsGCTGACCA	ENSP00000495806.1:n.124-26_124-19delinsGCTGACCA
ENST00000155840.9:c.922-26_922-19delinsGCTGACCA	ENSP00000155840.2:n.922-26_922-19delinsGCTGACCA
ENST00000335475.5:c.541-26_541-19delinsGCTGACCA	ENSP00000334497.5:n.541-26_541-19delinsGCTGACCA
NM_000218.2:c.922-26_922-19delinsGCTGACCA , LRG_287t1:c.922-26_922-19delinsGCTGACCA	NP_000209.2:n.922-26_922-19delinsGCTGACCA
NM_181798.1:c.541-26_541-19delinsGCTGACCA , LRG_287t2:c.541-26_541-19delinsGCTGACCA	NP_861463.1:n.541-26_541-19delinsGCTGACCA
NM_000218.3:c.922-26_922-19delinsGCTGACCA MANE Select	NP_000209.2:n.922-26_922-19delinsGCTGACCA