Canonical Allele Identifier: CA9043355

Gene: NDUFS7

Linked Data

• dbSNP Id: rs1555775841
• ExAC: 19:1391060 T / TTCCAGCCG
• gnomAD v2: 19-1391060-T-TTCCAGCCG
• gnomAD v4: 19-1391061-T-TTCCAGCCG
• MyVariant Identifiers: chr19:g.1391060_1391061insTCCAGCCG (hg19) ; chr19:g.1391061_1391068delinsTCCAGCCGCCCAGCCG (hg19) ; chr19:g.1391061_1391062insTCCAGCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1391061_1391062insTCCAGCCG , CM000681.2:g.1391061_1391062insTCCAGCCG	GRCh38
NC_000019.9:g.1391060_1391061insTCCAGCCG , CM000681.1:g.1391060_1391061insTCCAGCCG	GRCh37
NC_000019.8:g.1342060_1342061insTCCAGCCG	NCBI36
NG_008283.1:g.12178_12179insTCCAGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233627.14:c.408+11_408+12insTCCAGCCG MANE Select	ENSP00000233627.9:n.408+11_408+12insTCCAGCCG
ENST00000233627.13:c.408+11_408+12insTCCAGCCG	ENSP00000233627.9:n.408+11_408+12insTCCAGCCG
ENST00000313408.11:c.408+11_408+12insTCCAGCCG	ENSP00000364262.5:n.408+11_408+12insTCCAGCCG
ENST00000414651.3:c.498+11_498+12insTCCAGCCG	ENSP00000406630.2:n.498+11_498+12insTCCAGCCG
ENST00000436115.6:n.2363+11_2363+12insTCCAGCCG
ENST00000534853.5:c.*202+11_*202+12insTCCAGCCG	ENSP00000442822.1:n.*202+11_*202+12insTCCAGCCG
ENST00000535382.1:n.660+11_660+12insTCCAGCCG
ENST00000538523.5:n.464+11_464+12insTCCAGCCG
ENST00000538662.5:n.446_447insTCCAGCCG
ENST00000538929.5:n.498+11_498+12insTCCAGCCG
ENST00000539480.5:c.408+11_408+12insTCCAGCCG	ENSP00000443273.1:n.408+11_408+12insTCCAGCCG
ENST00000540530.5:n.399+11_399+12insTCCAGCCG
ENST00000543289.5:n.909_910insTCCAGCCG
ENST00000545446.5:n.699+11_699+12insTCCAGCCG
ENST00000546172.7:c.*404+11_*404+12insTCCAGCCG	ENSP00000467094.1:n.*404+11_*404+12insTCCAGCCG
ENST00000546283.5:c.408+11_408+12insTCCAGCCG	ENSP00000440348.1:n.408+11_408+12insTCCAGCCG
ENST00000618074.4:c.409-6_409-5insTCCAGCCG	ENSP00000477895.1:n.409-6_409-5insTCCAGCCG
ENST00000620479.4:c.408+11_408+12insTCCAGCCG	ENSP00000480984.1:n.408+11_408+12insTCCAGCCG
ENST00000622587.4:n.415_416insTCCAGCCG
NM_024407.4:c.408+11_408+12insTCCAGCCG	NP_077718.3:n.408+11_408+12insTCCAGCCG
XM_005259556.3:c.408+11_408+12insTCCAGCCG	XP_005259613.2:n.408+11_408+12insTCCAGCCG
NM_001363602.1:c.408+11_408+12insTCCAGCCG	NP_001350531.1:n.408+11_408+12insTCCAGCCG
XM_024451499.1:c.429+11_429+12insTCCAGCCG	XP_024307267.1:n.429+11_429+12insTCCAGCCG
NM_024407.5:c.408+11_408+12insTCCAGCCG MANE Select	NP_077718.3:n.408+11_408+12insTCCAGCCG
NM_001363602.2:c.408+11_408+12insTCCAGCCG	NP_001350531.1:n.408+11_408+12insTCCAGCCG