Canonical Allele Identifier: CA1948349970

Gene: KCNQ1 KCNQ1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848415_2848435delinsCAGCCTCAAATCCAGGACCCT , CM000673.2:g.2848415_2848435delinsCAGCCTCAAATCCAGGACCCT	GRCh38
NC_000011.9:g.2869645_2869665delinsCAGCCTCAAATCCAGGACCCT , CM000673.1:g.2869645_2869665delinsCAGCCTCAAATCCAGGACCCT	GRCh37
NC_000011.8:g.2826221_2826241delinsCAGCCTCAAATCCAGGACCCT	NCBI36
NG_008935.1:g.408425_408445delinsCAGCCTCAAATCCAGGACCCT , LRG_287:g.408425_408445delinsCAGCCTCAAATCCAGGACCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.*412_*432delinsCAGCCTCAAATCCAGGACCCT (KCNQ1)	ENSP00000434560.2:n.*412_*432delinsCAGCCT...
ENST00000155840.12:c.*412_*432delinsCAGCCTCAAATCCAGGACCCT (KCNQ1) MANE Select	ENSP00000155840.2:n.*412_*432delinsCAGCCT...
ENST00000335475.6:c.*412_*432delinsCAGCCTCAAATCCAGGACCCT (KCNQ1)	ENSP00000334497.5:n.*412_*432delinsCAGCCT...
ENST00000155840.9:c.*412_*432delinsCAGCCTCAAATCCAGGACCCT (KCNQ1)	ENSP00000155840.2:n.*412_*432delinsCAGCCT...
ENST00000526095.1:n.950_970delinsCAGCCTCAAATCCAGGACCCT (KCNQ1)
NM_000218.2:c.*412_*432delinsCAGCCTCAAATCCAGGACCCT , LRG_287t1:c.*412_*432delinsCAGCCTCAAATCCAGGACCCT (KCNQ1)	NP_000209.2:n.*412_*432delinsCAGCCTCAAATC...
NM_181798.1:c.*412_*432delinsCAGCCTCAAATCCAGGACCCT , LRG_287t2:c.*412_*432delinsCAGCCTCAAATCCAGGACCCT (KCNQ1)	NP_861463.1:n.*412_*432delinsCAGCCTCAAATC...
NR_130721.1:n.778-7993_778-7973delinsAGGGTCCTGGATTTGAGGCTG (KCNQ1-AS1)
NM_000218.3:c.*412_*432delinsCAGCCTCAAATCCAGGACCCT (KCNQ1) MANE Select	NP_000209.2:n.*412_*432delinsCAGCCTCAAATC...