Canonical Allele Identifier: CA2496476566

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206122481_206122485delinsTAGCC , CM000664.2:g.206122481_206122485delinsTAGCC	GRCh38
NC_000002.11:g.206987205_206987209delinsTAGCC , CM000664.1:g.206987205_206987209delinsTAGCC	GRCh37
NC_000002.10:g.206695450_206695454delinsTAGCC	NCBI36
NG_009248.1:g.41979_41983delinsGGCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*1700_*1704delinsGGCTA MANE Select	ENSP00000233190.5:n.*1700_*1704delinsGGCTA
ENST00000233190.10:c.*1700_*1704delinsGGCTA	ENSP00000233190.5:n.*1700_*1704delinsGGCTA
NM_001199981.2:c.*1700_*1704delinsGGCTA	NP_001186910.1:n.*1700_*1704delinsGGCTA
NM_001199982.2:c.*1700_*1704delinsGGCTA	NP_001186911.1:n.*1700_*1704delinsGGCTA
NM_001199983.2:c.*1700_*1704delinsGGCTA	NP_001186912.1:n.*1700_*1704delinsGGCTA
NM_005006.7:c.*1700_*1704delinsGGCTA MANE Select	NP_004997.4:n.*1700_*1704delinsGGCTA
NM_001199984.2:c.*1700_*1704delinsGGCTA	NP_001186913.1:n.*1700_*1704delinsGGCTA