Canonical Allele Identifier: CA2685607217

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958085-GGCAGCACCCCGGCGCGCATGGCCTCGATGTCGTCGGCCGACGAGGCGCGGCGCACGCTGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958091_150958151del , CM000669.2:g.150958091_150958151del	GRCh38
NC_000007.13:g.150655179_150655239del , CM000669.1:g.150655179_150655239del	GRCh37
NC_000007.12:g.150286112_150286172del	NCBI36
NG_008916.1:g.24781_24841del , LRG_288:g.24781_24841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1662_1722del
ENST00000262186.10:c.829_889del MANE Select	ENSP00000262186.5:p.Ala277ProfsTer?
ENST00000262186.9:c.829_889del	ENSP00000262186.5:p.Ala277ProfsTer?
ENST00000430723.4:c.481_541del	ENSP00000387657.4:p.Ala161ProfsTer?
ENST00000532957.5:n.1052_1112del
NM_000238.3:c.829_889del , LRG_288t1:c.829_889del	NP_000229.1:p.Ala277ProfsTer?
NM_172056.2:c.829_889del , LRG_288t2:c.829_889del	NP_742053.1:p.Ala277ProfsTer?
XM_011516185.1:c.529_589del	XP_011514487.1:p.Ala177ProfsTer?
XM_011516186.1:c.829_889del	XP_011514488.1:p.Ala277ProfsTer?
XM_011516185.2:c.529_589del	XP_011514487.1:p.Ala177ProfsTer?
XM_011516186.3:c.829_889del	XP_011514488.1:p.Ala277ProfsTer?
XM_017012195.1:c.679_739del	XP_016867684.1:p.Ala227ProfsTer?
XM_017012196.1:c.652_712del	XP_016867685.1:p.Ala218ProfsTer?
NM_000238.4:c.829_889del MANE Select	NP_000229.1:p.Ala277ProfsTer?