Canonical Allele Identifier: CA1948232838

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587522_2587523delinsCG , CM000673.2:g.2587522_2587523delinsCG	GRCh38
NC_000011.9:g.2608752_2608753delinsCG , CM000673.1:g.2608752_2608753delinsCG	GRCh37
NC_000011.8:g.2565328_2565329delinsCG	NCBI36
NG_008935.1:g.147532_147533delinsCG , LRG_287:g.147532_147533delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.772-48_772-47delinsCG	ENSP00000434560.2:n.772-48_772-47delinsCG
ENST00000646564.2:c.589-48_589-47delinsCG	ENSP00000495806.2:n.589-48_589-47delinsCG
ENST00000155840.12:c.1129-48_1129-47delinsCG MANE Select	ENSP00000155840.2:n.1129-48_1129-47delinsCG
ENST00000335475.6:c.748-48_748-47delinsCG	ENSP00000334497.5:n.748-48_748-47delinsCG
ENST00000646564.1:c.235-48_235-47delinsCG	ENSP00000495806.1:n.235-48_235-47delinsCG
ENST00000155840.9:c.1129-48_1129-47delinsCG	ENSP00000155840.2:n.1129-48_1129-47delinsCG
ENST00000335475.5:c.748-48_748-47delinsCG	ENSP00000334497.5:n.748-48_748-47delinsCG
NM_000218.2:c.1129-48_1129-47delinsCG , LRG_287t1:c.1129-48_1129-47delinsCG	NP_000209.2:n.1129-48_1129-47delinsCG
NM_181798.1:c.748-48_748-47delinsCG , LRG_287t2:c.748-48_748-47delinsCG	NP_861463.1:n.748-48_748-47delinsCG
NM_000218.3:c.1129-48_1129-47delinsCG MANE Select	NP_000209.2:n.1129-48_1129-47delinsCG