Canonical Allele Identifier: CA2685603901

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150955560-C-CCATAGATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955561_150955562insATAGATTGC , CM000669.2:g.150955561_150955562insATAGATTGC	GRCh38
NC_000007.13:g.150652649_150652650insATAGATTGC , CM000669.1:g.150652649_150652650insATAGATTGC	GRCh37
NC_000007.12:g.150283582_150283583insATAGATTGC	NCBI36
NG_008916.1:g.27366_27367insCAATCTATG , LRG_288:g.27366_27367insCAATCTATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.261_262insCAATCTATG
ENST00000684241.1:n.1961+1730_1961+1731insCAATCTATG
ENST00000262186.10:c.1128+1730_1128+1731insCAATCTATG MANE Select	ENSP00000262186.5:n.1128+1730_1128+1731insCAATCTATG
ENST00000330883.9:c.-58_-57insCAATCTATG	ENSP00000328531.4:n.-58_-57insCAATCTATG
ENST00000262186.9:c.1128+1730_1128+1731insCAATCTATG	ENSP00000262186.5:n.1128+1730_1128+1731insCAATCTATG
ENST00000330883.8:c.-58_-57insCAATCTATG	ENSP00000328531.4:n.-58_-57insCAATCTATG
ENST00000430723.4:c.780+1730_780+1731insCAATCTATG	ENSP00000387657.4:n.780+1730_780+1731insCAATCTATG
ENST00000461280.1:n.250_251insCAATCTATG
ENST00000473610.5:n.268_269insCAATCTATG
ENST00000532957.5:n.1351+1730_1351+1731insCAATCTATG
NM_000238.3:c.1128+1730_1128+1731insCAATCTATG , LRG_288t1:c.1128+1730_1128+1731insCAATCTATG	NP_000229.1:n.1128+1730_1128+1731insCAATCTATG
NM_001204798.1:c.-58_-57insCAATCTATG	NP_001191727.1:n.-58_-57insCAATCTATG
NM_172056.2:c.1128+1730_1128+1731insCAATCTATG , LRG_288t2:c.1128+1730_1128+1731insCAATCTATG	NP_742053.1:n.1128+1730_1128+1731insCAATCTATG
NM_172057.2:c.-58_-57insCAATCTATG , LRG_288t3:c.-58_-57insCAATCTATG	NP_742054.1:n.-58_-57insCAATCTATG
XM_011516185.1:c.828+1730_828+1731insCAATCTATG	XP_011514487.1:n.828+1730_828+1731insCAATCTATG
XM_011516186.1:c.1128+1730_1128+1731insCAATCTATG	XP_011514488.1:n.1128+1730_1128+1731insCAATCTATG
XM_011516185.2:c.828+1730_828+1731insCAATCTATG	XP_011514487.1:n.828+1730_828+1731insCAATCTATG
XM_011516186.3:c.1128+1730_1128+1731insCAATCTATG	XP_011514488.1:n.1128+1730_1128+1731insCAATCTATG
XM_017012195.1:c.978+1730_978+1731insCAATCTATG	XP_016867684.1:n.978+1730_978+1731insCAATCTATG
XM_017012196.1:c.951+1730_951+1731insCAATCTATG	XP_016867685.1:n.951+1730_951+1731insCAATCTATG
NM_000238.4:c.1128+1730_1128+1731insCAATCTATG MANE Select	NP_000229.1:n.1128+1730_1128+1731insCAATCTATG
NM_001204798.2:c.-58_-57insCAATCTATG	NP_001191727.1:n.-58_-57insCAATCTATG
NM_172057.3:c.-58_-57insCAATCTATG	NP_742054.1:n.-58_-57insCAATCTATG