Canonical Allele Identifier: CA1948236657

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588966_2588983delinsAGGTATGAACAGACAGAG , CM000673.2:g.2588966_2588983delinsAGGTATGAACAGACAGAG	GRCh38
NC_000011.9:g.2610196_2610213delinsAGGTATGAACAGACAGAG , CM000673.1:g.2610196_2610213delinsAGGTATGAACAGACAGAG	GRCh37
NC_000011.8:g.2566772_2566789delinsAGGTATGAACAGACAGAG	NCBI36
NG_008935.1:g.148976_148993delinsAGGTATGAACAGACAGAG , LRG_287:g.148976_148993delinsAGGTATGAACAGACAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1036+112_1036+129delinsAGGTATGAACAGACAGAG	ENSP00000434560.2:n.1036+112_1036+129delinsAGGTATGAACAGACAGAG...
ENST00000646564.2:c.853+112_853+129delinsAGGTATGAACAGACAGAG	ENSP00000495806.2:n.853+112_853+129delinsAGGTATGAACAGACAGAG
ENST00000155840.12:c.1393+112_1393+129delinsAGGTATGAACAGACAGAG MANE Select	ENSP00000155840.2:n.1393+112_1393+129delinsAGGTATGAACAGACAGAG...
ENST00000335475.6:c.1012+112_1012+129delinsAGGTATGAACAGACAGAG	ENSP00000334497.5:n.1012+112_1012+129delinsAGGTATGAACAGACAGAG...
ENST00000646564.1:c.499+112_499+129delinsAGGTATGAACAGACAGAG	ENSP00000495806.1:n.499+112_499+129delinsAGGTATGAACAGACAGAG
ENST00000155840.9:c.1393+112_1393+129delinsAGGTATGAACAGACAGAG	ENSP00000155840.2:n.1393+112_1393+129delinsAGGTATGAACAGACAGAG...
ENST00000335475.5:c.1012+112_1012+129delinsAGGTATGAACAGACAGAG	ENSP00000334497.5:n.1012+112_1012+129delinsAGGTATGAACAGACAGAG...
NM_000218.2:c.1393+112_1393+129delinsAGGTATGAACAGACAGAG , LRG_287t1:c.1393+112_1393+129delinsAGGTATGAACAGACAGAG	NP_000209.2:n.1393+112_1393+129delinsAGGTATGAACAGACAGAG
NM_181798.1:c.1012+112_1012+129delinsAGGTATGAACAGACAGAG , LRG_287t2:c.1012+112_1012+129delinsAGGTATGAACAGACAGAG	NP_861463.1:n.1012+112_1012+129delinsAGGTATGAACAGACAGAG
NM_000218.3:c.1393+112_1393+129delinsAGGTATGAACAGACAGAG MANE Select	NP_000209.2:n.1393+112_1393+129delinsAGGTATGAACAGACAGAG