Canonical Allele Identifier: CA2582637691

Gene: NDUFS7

Linked Data

• gnomAD v4: 19-1391022-CCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391026_1391028del , CM000681.2:g.1391026_1391028del	GRCh38
NC_000019.9:g.1391025_1391027del , CM000681.1:g.1391025_1391027del	GRCh37
NC_000019.8:g.1342025_1342027del	NCBI36
NG_008283.1:g.12143_12145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.384_386del MANE Select	ENSP00000233627.9:p.Asn128del
ENST00000233627.13:c.384_386del	ENSP00000233627.9:p.Asn128del
ENST00000313408.11:c.384_386del	ENSP00000364262.5:p.Asn128del
ENST00000414651.3:c.474_476del	ENSP00000406630.2:p.Asn158del
ENST00000436115.6:n.2339_2341del
ENST00000534853.5:c.*178_*180del	ENSP00000442822.1:n.*178_*180del
ENST00000535382.1:n.636_638del
ENST00000538523.5:n.440_442del
ENST00000538662.5:n.411_413del
ENST00000538929.5:n.474_476del
ENST00000539480.5:c.384_386del	ENSP00000443273.1:p.Asn128del
ENST00000540530.5:n.375_377del
ENST00000543289.5:n.874_876del
ENST00000545446.5:n.675_677del
ENST00000546172.7:c.*380_*382del	ENSP00000467094.1:n.*380_*382del
ENST00000546283.5:c.384_386del	ENSP00000440348.1:p.Asn128del
ENST00000618074.4:c.384_386del	ENSP00000477895.1:p.Asn128del
ENST00000620479.4:c.384_386del	ENSP00000480984.1:p.Asn128del
ENST00000622587.4:n.380_382del
NM_024407.4:c.384_386del	NP_077718.3:p.Asn128del
XM_005259556.3:c.384_386del	XP_005259613.2:p.Asn128del
NM_001363602.1:c.384_386del	NP_001350531.1:p.Asn128del
XM_024451499.1:c.405_407del	XP_024307267.1:p.Asn135del
NM_024407.5:c.384_386del MANE Select	NP_077718.3:p.Asn128del
NM_001363602.2:c.384_386del	NP_001350531.1:p.Asn128del