Canonical Allele Identifier: CA1041604213

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1691125061
• gnomAD v3: 2-206122485-CAG-C
• gnomAD v4: 2-206122485-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206122486_206122487del , CM000664.2:g.206122486_206122487del	GRCh38
NC_000002.11:g.206987210_206987211del , CM000664.1:g.206987210_206987211del	GRCh37
NC_000002.10:g.206695455_206695456del	NCBI36
NG_009248.1:g.41977_41978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*1698_*1699del MANE Select	ENSP00000233190.5:n.*1698_*1699del
ENST00000233190.10:c.*1698_*1699del	ENSP00000233190.5:n.*1698_*1699del
NM_001199981.2:c.*1698_*1699del	NP_001186910.1:n.*1698_*1699del
NM_001199982.2:c.*1698_*1699del	NP_001186911.1:n.*1698_*1699del
NM_001199983.2:c.*1698_*1699del	NP_001186912.1:n.*1698_*1699del
NM_005006.7:c.*1698_*1699del MANE Select	NP_004997.4:n.*1698_*1699del
NM_001199984.2:c.*1698_*1699del	NP_001186913.1:n.*1698_*1699del