Canonical Allele Identifier: CA992511752

Gene: NDUFS7

Linked Data

• gnomAD v3: 19-1391075-CCGCCCCCAGAGTGA-C
• gnomAD v4: 19-1391075-CCGCCCCCAGAGTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391076_1391089del , CM000681.2:g.1391076_1391089del	GRCh38
NC_000019.9:g.1391075_1391088del , CM000681.1:g.1391075_1391088del	GRCh37
NC_000019.8:g.1342075_1342088del	NCBI36
NG_008283.1:g.12193_12206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.408+26_409-30del MANE Select	ENSP00000233627.9:n.408+26_409-30del
ENST00000233627.13:c.408+26_409-30del	ENSP00000233627.9:n.408+26_409-30del
ENST00000313408.11:c.408+26_409-30del	ENSP00000364262.5:n.408+26_409-30del
ENST00000414651.3:c.498+26_499-30del	ENSP00000406630.2:n.498+26_499-30del
ENST00000436115.6:n.2363+26_2364-30del
ENST00000534853.5:c.*202+26_*203-30del	ENSP00000442822.1:n.*202+26_*203-30del
ENST00000535382.1:n.660+26_661-30del
ENST00000538523.5:n.464+26_465-30del
ENST00000538662.5:n.461_474del
ENST00000538929.5:n.498+26_499-30del
ENST00000539480.5:c.408+26_409-30del	ENSP00000443273.1:n.408+26_409-30del
ENST00000540530.5:n.399+26_400-30del
ENST00000543289.5:n.924_937del
ENST00000545446.5:n.699+26_700-30del
ENST00000546172.7:c.*404+26_*405-30del	ENSP00000467094.1:n.*404+26_*405-30del
ENST00000546283.5:c.408+26_409-30del	ENSP00000440348.1:n.408+26_409-30del
ENST00000618074.4:c.418_427+4del
ENST00000620479.4:c.408+26_409-22del	ENSP00000480984.1:n.408+26_409-22del
ENST00000622587.4:n.430_443del
NM_024407.4:c.408+26_409-30del	NP_077718.3:n.408+26_409-30del
XM_005259556.3:c.408+26_409-30del	XP_005259613.2:n.408+26_409-30del
NM_001363602.1:c.408+26_409-30del	NP_001350531.1:n.408+26_409-30del
XM_024451499.1:c.429+26_430-30del	XP_024307267.1:n.429+26_430-30del
NM_024407.5:c.408+26_409-30del MANE Select	NP_077718.3:n.408+26_409-30del
NM_001363602.2:c.408+26_409-30del	NP_001350531.1:n.408+26_409-30del