Canonical Allele Identifier: CA578701611

Gene: KCNH2

Linked Data

• gnomAD v2: 7-150645499-CGCCCT-C
• gnomAD v3: 7-150948411-CGCCCT-C
• gnomAD v4: 7-150948411-CGCCCT-C
• MyVariant Identifiers: chr7:g.150645500_150645514delinsCCCCCTTCCT (hg19) ; chr7:g.150948412_150948426delinsCCCCCTTCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948412_150948416del , CM000669.2:g.150948412_150948416del	GRCh38
NC_000007.13:g.150645500_150645504del , CM000669.1:g.150645500_150645504del	GRCh37
NC_000007.12:g.150276433_150276437del	NCBI36
NG_008916.1:g.34511_34515del , LRG_288:g.34511_34515del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3525+28_3525+32del
ENST00000262186.10:c.2692+28_2692+32del MANE Select	ENSP00000262186.5:n.2692+28_2692+32del
ENST00000330883.9:c.1672+28_1672+32del	ENSP00000328531.4:n.1672+28_1672+32del
ENST00000262186.9:c.2692+28_2692+32del	ENSP00000262186.5:n.2692+28_2692+32del
ENST00000330883.8:c.1672+28_1672+32del	ENSP00000328531.4:n.1672+28_1672+32del
NM_000238.3:c.2692+28_2692+32del , LRG_288t1:c.2692+28_2692+32del	NP_000229.1:n.2692+28_2692+32del
NM_172057.2:c.1672+28_1672+32del , LRG_288t3:c.1672+28_1672+32del	NP_742054.1:n.1672+28_1672+32del
XM_011516185.1:c.2392+28_2392+32del	XP_011514487.1:n.2392+28_2392+32del
XM_011516186.1:c.2692+28_2692+32del	XP_011514488.1:n.2692+28_2692+32del
XM_011516185.2:c.2392+28_2392+32del	XP_011514487.1:n.2392+28_2392+32del
XM_011516186.3:c.2692+28_2692+32del	XP_011514488.1:n.2692+28_2692+32del
XM_017012195.1:c.2542+28_2542+32del	XP_016867684.1:n.2542+28_2542+32del
XM_017012196.1:c.2515+28_2515+32del	XP_016867685.1:n.2515+28_2515+32del
NM_000238.4:c.2692+28_2692+32del MANE Select	NP_000229.1:n.2692+28_2692+32del
NM_172057.3:c.1672+28_1672+32del	NP_742054.1:n.1672+28_1672+32del