Canonical Allele Identifier: CA2317693565

Gene: NDUFS7

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1389161_1389163delinsGCA , CM000681.2:g.1389161_1389163delinsGCA	GRCh38
NC_000019.9:g.1389160_1389162delinsGCA , CM000681.1:g.1389160_1389162delinsGCA	GRCh37
NC_000019.8:g.1340160_1340162delinsGCA	NCBI36
NG_008283.1:g.10278_10280delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.228+223_228+225delinsGCA MANE Select	ENSP00000233627.9:n.228+223_228+225delinsGCA
ENST00000233627.13:c.228+223_228+225delinsGCA	ENSP00000233627.9:n.228+223_228+225delinsGCA
ENST00000313408.11:c.228+223_228+225delinsGCA	ENSP00000364262.5:n.228+223_228+225delinsGCA
ENST00000414651.3:c.318+223_318+225delinsGCA	ENSP00000406630.2:n.318+223_318+225delinsGCA
ENST00000436115.6:n.474_476delinsGCA
ENST00000534853.5:c.*22+223_*22+225delinsGCA	ENSP00000442822.1:n.*22+223_*22+225delinsGCA
ENST00000535382.1:n.480+223_480+225delinsGCA
ENST00000538523.5:n.284+223_284+225delinsGCA
ENST00000538662.5:n.255+223_255+225delinsGCA
ENST00000538929.5:n.318+223_318+225delinsGCA
ENST00000539480.5:c.228+223_228+225delinsGCA	ENSP00000443273.1:n.228+223_228+225delinsGCA
ENST00000540530.5:n.219+223_219+225delinsGCA
ENST00000543289.5:n.718+223_718+225delinsGCA
ENST00000545446.5:n.519+223_519+225delinsGCA
ENST00000546172.7:c.*224+223_*224+225delinsGCA	ENSP00000467094.1:n.*224+223_*224+225delinsGCA
ENST00000546283.5:c.228+223_228+225delinsGCA	ENSP00000440348.1:n.228+223_228+225delinsGCA
ENST00000618074.4:c.228+223_228+225delinsGCA	ENSP00000477895.1:n.228+223_228+225delinsGCA
ENST00000620479.4:c.228+223_228+225delinsGCA	ENSP00000480984.1:n.228+223_228+225delinsGCA
ENST00000622587.4:n.224+223_224+225delinsGCA
NM_024407.4:c.228+223_228+225delinsGCA	NP_077718.3:n.228+223_228+225delinsGCA
XM_005259556.3:c.228+223_228+225delinsGCA	XP_005259613.2:n.228+223_228+225delinsGCA
NM_001363602.1:c.228+223_228+225delinsGCA	NP_001350531.1:n.228+223_228+225delinsGCA
XM_017026768.2:c.451_453delinsGCA	XP_016882257.2:p.Ala151=
XM_024451499.1:c.249+223_249+225delinsGCA	XP_024307267.1:n.249+223_249+225delinsGCA
NM_024407.5:c.228+223_228+225delinsGCA MANE Select	NP_077718.3:n.228+223_228+225delinsGCA
NM_001363602.2:c.228+223_228+225delinsGCA	NP_001350531.1:n.228+223_228+225delinsGCA