Canonical Allele Identifier: CA992511689

Gene: NDUFS7

Linked Data

• gnomAD v3: 19-1390999-C-CTG
• gnomAD v4: 19-1390999-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1390999_1391000insTG , CM000681.2:g.1390999_1391000insTG	GRCh38
NC_000019.9:g.1390998_1390999insTG , CM000681.1:g.1390998_1390999insTG	GRCh37
NC_000019.8:g.1341998_1341999insTG	NCBI36
NG_008283.1:g.12116_12117insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.357_358insTG MANE Select	ENSP00000233627.9:p.Met120Ter
ENST00000233627.13:c.357_358insTG	ENSP00000233627.9:p.Met120Ter
ENST00000313408.11:c.357_358insTG	ENSP00000364262.5:p.Met120Ter
ENST00000414651.3:c.447_448insTG	ENSP00000406630.2:p.Met150Ter
ENST00000436115.6:n.2312_2313insTG
ENST00000534853.5:c.*151_*152insTG	ENSP00000442822.1:n.*151_*152insTG
ENST00000535382.1:n.609_610insTG
ENST00000538523.5:n.413_414insTG
ENST00000538662.5:n.384_385insTG
ENST00000538929.5:n.447_448insTG
ENST00000539480.5:c.357_358insTG	ENSP00000443273.1:p.Met120Ter
ENST00000540530.5:n.348_349insTG
ENST00000543289.5:n.847_848insTG
ENST00000545446.5:n.648_649insTG
ENST00000546172.7:c.*353_*354insTG	ENSP00000467094.1:n.*353_*354insTG
ENST00000546283.5:c.357_358insTG	ENSP00000440348.1:p.Met120Ter
ENST00000618074.4:c.357_358insTG	ENSP00000477895.1:p.Met120Ter
ENST00000620479.4:c.357_358insTG	ENSP00000480984.1:p.Met120Ter
ENST00000622587.4:n.353_354insTG
NM_024407.4:c.357_358insTG	NP_077718.3:p.Met120Ter
XM_005259556.3:c.357_358insTG	XP_005259613.2:p.Met120Ter
NM_001363602.1:c.357_358insTG	NP_001350531.1:p.Met120Ter
XM_024451499.1:c.378_379insTG	XP_024307267.1:p.Met127Ter
NM_024407.5:c.357_358insTG MANE Select	NP_077718.3:p.Met120Ter
NM_001363602.2:c.357_358insTG	NP_001350531.1:p.Met120Ter