Canonical Allele Identifier: CA2496476467

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206122268_206122271delinsCCTG , CM000664.2:g.206122268_206122271delinsCCTG	GRCh38
NC_000002.11:g.206986992_206986995delinsCCTG , CM000664.1:g.206986992_206986995delinsCCTG	GRCh37
NC_000002.10:g.206695237_206695240delinsCCTG	NCBI36
NG_009248.1:g.42193_42196delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.*1914_*1917delinsCAGG MANE Select	ENSP00000233190.5:n.*1914_*1917delinsCAGG
ENST00000233190.10:c.*1914_*1917delinsCAGG	ENSP00000233190.5:n.*1914_*1917delinsCAGG
NM_001199981.2:c.*1914_*1917delinsCAGG	NP_001186910.1:n.*1914_*1917delinsCAGG
NM_001199982.2:c.*1914_*1917delinsCAGG	NP_001186911.1:n.*1914_*1917delinsCAGG
NM_001199983.2:c.*1914_*1917delinsCAGG	NP_001186912.1:n.*1914_*1917delinsCAGG
NM_005006.7:c.*1914_*1917delinsCAGG MANE Select	NP_004997.4:n.*1914_*1917delinsCAGG
NM_001199984.2:c.*1914_*1917delinsCAGG	NP_001186913.1:n.*1914_*1917delinsCAGG