Canonical Allele Identifier: CA2317693550

Gene: NDUFS7

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389152_1389168delinsCGCACACATGCACACTT , CM000681.2:g.1389152_1389168delinsCGCACACATGCACACTT	GRCh38
NC_000019.9:g.1389151_1389167delinsCGCACACATGCACACTT , CM000681.1:g.1389151_1389167delinsCGCACACATGCACACTT	GRCh37
NC_000019.8:g.1340151_1340167delinsCGCACACATGCACACTT	NCBI36
NG_008283.1:g.10269_10285delinsCGCACACATGCACACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+214_228+230delinsCGCACACATGCACACTT MANE Select	ENSP00000233627.9:n.228+214_228+230delinsCGCACACATGCACACTT
ENST00000233627.13:c.228+214_228+230delinsCGCACACATGCACACTT	ENSP00000233627.9:n.228+214_228+230delinsCGCACACATGCACACTT
ENST00000313408.11:c.228+214_228+230delinsCGCACACATGCACACTT	ENSP00000364262.5:n.228+214_228+230delinsCGCACACATGCACACTT
ENST00000414651.3:c.318+214_318+230delinsCGCACACATGCACACTT	ENSP00000406630.2:n.318+214_318+230delinsCGCACACATGCACACTT
ENST00000436115.6:n.465_481delinsCGCACACATGCACACTT
ENST00000534853.5:c.*22+214_*22+230delinsCGCACACATGCACACTT	ENSP00000442822.1:n.*22+214_*22+230delinsCGCACACATGCACACTT
ENST00000535382.1:n.480+214_480+230delinsCGCACACATGCACACTT
ENST00000538523.5:n.284+214_284+230delinsCGCACACATGCACACTT
ENST00000538662.5:n.255+214_255+230delinsCGCACACATGCACACTT
ENST00000538929.5:n.318+214_318+230delinsCGCACACATGCACACTT
ENST00000539480.5:c.228+214_228+230delinsCGCACACATGCACACTT	ENSP00000443273.1:n.228+214_228+230delinsCGCACACATGCACACTT
ENST00000540530.5:n.219+214_219+230delinsCGCACACATGCACACTT
ENST00000543289.5:n.718+214_718+230delinsCGCACACATGCACACTT
ENST00000545446.5:n.519+214_519+230delinsCGCACACATGCACACTT
ENST00000546172.7:c.*224+214_*224+230delinsCGCACACATGCACACTT	ENSP00000467094.1:n.*224+214_*224+230delinsCGCACACATGCACACTT
ENST00000546283.5:c.228+214_228+230delinsCGCACACATGCACACTT	ENSP00000440348.1:n.228+214_228+230delinsCGCACACATGCACACTT
ENST00000618074.4:c.228+214_228+230delinsCGCACACATGCACACTT	ENSP00000477895.1:n.228+214_228+230delinsCGCACACATGCACACTT
ENST00000620479.4:c.228+214_228+230delinsCGCACACATGCACACTT	ENSP00000480984.1:n.228+214_228+230delinsCGCACACATGCACACTT
ENST00000622587.4:n.224+214_224+230delinsCGCACACATGCACACTT
NM_024407.4:c.228+214_228+230delinsCGCACACATGCACACTT	NP_077718.3:n.228+214_228+230delinsCGCACACATGCACACTT
XM_005259556.3:c.228+214_228+230delinsCGCACACATGCACACTT	XP_005259613.2:n.228+214_228+230delinsCGCACACATGCACACTT
NM_001363602.1:c.228+214_228+230delinsCGCACACATGCACACTT	NP_001350531.1:n.228+214_228+230delinsCGCACACATGCACACTT
XM_017026768.2:c.442_458delinsCGCACACATGCACACTT	XP_016882257.2:p.Arg148=
XM_024451499.1:c.249+214_249+230delinsCGCACACATGCACACTT	XP_024307267.1:n.249+214_249+230delinsCGCACACATGCACACTT
NM_024407.5:c.228+214_228+230delinsCGCACACATGCACACTT MANE Select	NP_077718.3:n.228+214_228+230delinsCGCACACATGCACACTT
NM_001363602.2:c.228+214_228+230delinsCGCACACATGCACACTT	NP_001350531.1:n.228+214_228+230delinsCGCACACATGCACACTT