Canonical Allele Identifier: CA539058194

Gene: NDUFS1

Linked Data

• gnomAD v2: 2-207009929-G-GTTTTTTTTT
• gnomAD v3: 2-206145205-G-GTTTTTTTTT
• gnomAD v4: 2-206145205-G-GTTTTTTTTT
• MyVariant Identifiers: chr2:g.207009929_207009930insTTTTTTTTT (hg19) ; chr2:g.206145205_206145206insTTTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206145206_206145207insTTTTTTTTT , CM000664.2:g.206145206_206145207insTTTTTTTTT	GRCh38
NC_000002.11:g.207009930_207009931insTTTTTTTTT , CM000664.1:g.207009930_207009931insTTTTTTTTT	GRCh37
NC_000002.10:g.206718175_206718176insTTTTTTTTT	NCBI36
NG_009248.1:g.19258_19259insAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.738-180_738-179insAAAAAAAAA MANE Select	ENSP00000233190.5:n.738-180_738-179insAAAAAAAAA
ENST00000233190.10:c.738-180_738-179insAAAAAAAAA	ENSP00000233190.5:n.738-180_738-179insAAAAAAAAA
ENST00000423725.5:c.567-180_567-179insAAAAAAAAA	ENSP00000397760.1:n.567-180_567-179insAAAAAAAAA
ENST00000432169.5:c.405-180_405-179insAAAAAAAAA	ENSP00000409689.1:n.405-180_405-179insAAAAAAAAA
ENST00000440274.5:c.630-180_630-179insAAAAAAAAA	ENSP00000409766.1:n.630-180_630-179insAAAAAAAAA
ENST00000449699.5:c.738-180_738-179insAAAAAAAAA	ENSP00000399912.1:n.738-180_738-179insAAAAAAAAA
ENST00000455934.6:c.780-180_780-179insAAAAAAAAA	ENSP00000392709.2:n.780-180_780-179insAAAAAAAAA
ENST00000457011.5:c.390-180_390-179insAAAAAAAAA	ENSP00000400976.1:n.390-180_390-179insAAAAAAAAA
NM_001199981.1:c.630-180_630-179insAAAAAAAAA	NP_001186910.1:n.630-180_630-179insAAAAAAAAA
NM_001199982.1:c.405-180_405-179insAAAAAAAAA	NP_001186911.1:n.405-180_405-179insAAAAAAAAA
NM_001199983.1:c.567-180_567-179insAAAAAAAAA	NP_001186912.1:n.567-180_567-179insAAAAAAAAA
NM_001199984.1:c.780-180_780-179insAAAAAAAAA	NP_001186913.1:n.780-180_780-179insAAAAAAAAA
NM_005006.6:c.738-180_738-179insAAAAAAAAA	NP_004997.4:n.738-180_738-179insAAAAAAAAA
XM_017004188.2:c.-53-149_-53-148insAAAAAAAAA	XP_016859677.1:n.-53-149_-53-148insAAAAAAAAA
NM_001199981.2:c.630-180_630-179insAAAAAAAAA	NP_001186910.1:n.630-180_630-179insAAAAAAAAA
NM_001199982.2:c.405-180_405-179insAAAAAAAAA	NP_001186911.1:n.405-180_405-179insAAAAAAAAA
NM_001199983.2:c.567-180_567-179insAAAAAAAAA	NP_001186912.1:n.567-180_567-179insAAAAAAAAA
NM_005006.7:c.738-180_738-179insAAAAAAAAA MANE Select	NP_004997.4:n.738-180_738-179insAAAAAAAAA
NM_001199984.2:c.780-180_780-179insAAAAAAAAA	NP_001186913.1:n.780-180_780-179insAAAAAAAAA