Canonical Allele Identifier: CA304058998

Gene: NDUFS7

Linked Data

• dbSNP Id: rs917519077
• gnomAD v2: 19-1389910-T-TC
• gnomAD v3: 19-1389911-T-TC
• gnomAD v4: 19-1389911-T-TC
• MyVariant Identifiers: chr19:g.1389910_1389911insC (hg19) ; chr19:g.1389911_1389912insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389911_1389912insC , CM000681.2:g.1389911_1389912insC	GRCh38
NC_000019.9:g.1389910_1389911insC , CM000681.1:g.1389910_1389911insC	GRCh37
NC_000019.8:g.1340910_1340911insC	NCBI36
NG_008283.1:g.11028_11029insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.229-960_229-959insC MANE Select	ENSP00000233627.9:n.229-960_229-959insC
ENST00000233627.13:c.229-960_229-959insC	ENSP00000233627.9:n.229-960_229-959insC
ENST00000313408.11:c.229-960_229-959insC	ENSP00000364262.5:n.229-960_229-959insC
ENST00000414651.3:c.319-960_319-959insC	ENSP00000406630.2:n.319-960_319-959insC
ENST00000436115.6:n.1224_1225insC
ENST00000534853.5:c.*23-960_*23-959insC	ENSP00000442822.1:n.*23-960_*23-959insC
ENST00000535382.1:n.481-960_481-959insC
ENST00000538523.5:n.285-960_285-959insC
ENST00000538662.5:n.256-960_256-959insC
ENST00000538929.5:n.319-960_319-959insC
ENST00000539480.5:c.229-960_229-959insC	ENSP00000443273.1:n.229-960_229-959insC
ENST00000540530.5:n.220-960_220-959insC
ENST00000543289.5:n.719-960_719-959insC
ENST00000545446.5:n.520-960_520-959insC
ENST00000546172.7:c.*225-960_*225-959insC	ENSP00000467094.1:n.*225-960_*225-959insC
ENST00000546283.5:c.229-960_229-959insC	ENSP00000440348.1:n.229-960_229-959insC
ENST00000618074.4:c.229-960_229-959insC	ENSP00000477895.1:n.229-960_229-959insC
ENST00000620479.4:c.229-960_229-959insC	ENSP00000480984.1:n.229-960_229-959insC
ENST00000622587.4:n.225-960_225-959insC
NM_024407.4:c.229-960_229-959insC	NP_077718.3:n.229-960_229-959insC
XM_005259556.3:c.229-960_229-959insC	XP_005259613.2:n.229-960_229-959insC
NM_001363602.1:c.229-960_229-959insC	NP_001350531.1:n.229-960_229-959insC
XM_024451499.1:c.250-960_250-959insC	XP_024307267.1:n.250-960_250-959insC
NM_024407.5:c.229-960_229-959insC MANE Select	NP_077718.3:n.229-960_229-959insC
NM_001363602.2:c.229-960_229-959insC	NP_001350531.1:n.229-960_229-959insC