Canonical Allele Identifier: CA1752441694

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974974_150974989delinsGGGGACCCCAGCCTCC , CM000669.2:g.150974974_150974989delinsGGGGACCCCAGCCTCC	GRCh38
NC_000007.13:g.150672062_150672077delinsGGGGACCCCAGCCTCC , CM000669.1:g.150672062_150672077delinsGGGGACCCCAGCCTCC	GRCh37
NC_000007.12:g.150302995_150303010delinsGGGGACCCCAGCCTCC	NCBI36
NG_008916.1:g.7938_7953delinsGGAGGCTGGGGTCCCC , LRG_288:g.7938_7953delinsGGAGGCTGGGGTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-48_77-33delinsGGAGGCTGGGGTCCCC MANE Select	ENSP00000262186.5:n.77-48_77-33delinsGGAGGCTGGGGTCCCC
ENST00000262186.9:c.77-48_77-33delinsGGAGGCTGGGGTCCCC	ENSP00000262186.5:n.77-48_77-33delinsGGAGGCTGGGGTCCCC
ENST00000430723.4:c.-101-48_-101-33delinsGGAGGCTGGGGTCCCC	ENSP00000387657.4:n.-101-48_-101-33delinsGGAGGCTGGGGTCCCC
ENST00000532957.5:n.300-48_300-33delinsGGAGGCTGGGGTCCCC
NM_000238.3:c.77-48_77-33delinsGGAGGCTGGGGTCCCC , LRG_288t1:c.77-48_77-33delinsGGAGGCTGGGGTCCCC	NP_000229.1:n.77-48_77-33delinsGGAGGCTGGGGTCCCC
NM_172056.2:c.77-48_77-33delinsGGAGGCTGGGGTCCCC , LRG_288t2:c.77-48_77-33delinsGGAGGCTGGGGTCCCC	NP_742053.1:n.77-48_77-33delinsGGAGGCTGGGGTCCCC
XM_011516186.1:c.77-48_77-33delinsGGAGGCTGGGGTCCCC	XP_011514488.1:n.77-48_77-33delinsGGAGGCTGGGGTCCCC
XM_011516186.3:c.77-48_77-33delinsGGAGGCTGGGGTCCCC	XP_011514488.1:n.77-48_77-33delinsGGAGGCTGGGGTCCCC
XM_017012196.1:c.-102+36_-101-33delinsGGAGGCTGGGGTCCCC	XP_016867685.1:n.-102+36_-101-33delinsGGAGGCTGGGGTCCCC
NM_000238.4:c.77-48_77-33delinsGGAGGCTGGGGTCCCC MANE Select	NP_000229.1:n.77-48_77-33delinsGGAGGCTGGGGTCCCC