Canonical Allele Identifier: CA1752431380

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948476_150948485delinsCGCTTGCGTT , CM000669.2:g.150948476_150948485delinsCGCTTGCGTT	GRCh38
NC_000007.13:g.150645564_150645573delinsCGCTTGCGTT , CM000669.1:g.150645564_150645573delinsCGCTTGCGTT	GRCh37
NC_000007.12:g.150276497_150276506delinsCGCTTGCGTT	NCBI36
NG_008916.1:g.34442_34451delinsAACGCAAGCG , LRG_288:g.34442_34451delinsAACGCAAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3484_3493delinsAACGCAAGCG
ENST00000262186.10:c.2651_2660delinsAACGCAAGCG MANE Select	ENSP00000262186.5:p.Gln884=
ENST00000330883.9:c.1631_1640delinsAACGCAAGCG	ENSP00000328531.4:p.Gln544=
ENST00000262186.9:c.2651_2660delinsAACGCAAGCG	ENSP00000262186.5:p.Gln884=
ENST00000330883.8:c.1631_1640delinsAACGCAAGCG	ENSP00000328531.4:p.Gln544=
NM_000238.3:c.2651_2660delinsAACGCAAGCG , LRG_288t1:c.2651_2660delinsAACGCAAGCG	NP_000229.1:p.Gln884=
NM_172057.2:c.1631_1640delinsAACGCAAGCG , LRG_288t3:c.1631_1640delinsAACGCAAGCG	NP_742054.1:p.Gln544=
XM_011516185.1:c.2351_2360delinsAACGCAAGCG	XP_011514487.1:p.Gln784=
XM_011516186.1:c.2651_2660delinsAACGCAAGCG	XP_011514488.1:p.Gln884=
XM_011516185.2:c.2351_2360delinsAACGCAAGCG	XP_011514487.1:p.Gln784=
XM_011516186.3:c.2651_2660delinsAACGCAAGCG	XP_011514488.1:p.Gln884=
XM_017012195.1:c.2501_2510delinsAACGCAAGCG	XP_016867684.1:p.Gln834=
XM_017012196.1:c.2474_2483delinsAACGCAAGCG	XP_016867685.1:p.Gln825=
NM_000238.4:c.2651_2660delinsAACGCAAGCG MANE Select	NP_000229.1:p.Gln884=
NM_172057.3:c.1631_1640delinsAACGCAAGCG	NP_742054.1:p.Gln544=