Canonical Allele Identifier: CA2662800531

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206127647-GTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127648_206127650del , CM000664.2:g.206127648_206127650del	GRCh38
NC_000002.11:g.206992372_206992374del , CM000664.1:g.206992372_206992374del	GRCh37
NC_000002.10:g.206700617_206700619del	NCBI36
NG_009248.1:g.36814_36816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1884+147_1884+149del MANE Select	ENSP00000233190.5:n.1884+147_1884+149del
ENST00000233190.10:c.1884+147_1884+149del	ENSP00000233190.5:n.1884+147_1884+149del
ENST00000423725.5:c.1713+147_1713+149del	ENSP00000397760.1:n.1713+147_1713+149del
ENST00000432169.5:c.1551+147_1551+149del	ENSP00000409689.1:n.1551+147_1551+149del
ENST00000440274.5:c.1776+147_1776+149del	ENSP00000409766.1:n.1776+147_1776+149del
ENST00000449699.5:c.1884+147_1884+149del	ENSP00000399912.1:n.1884+147_1884+149del
ENST00000455934.6:c.1926+147_1926+149del	ENSP00000392709.2:n.1926+147_1926+149del
ENST00000457011.5:c.1536+147_1536+149del	ENSP00000400976.1:n.1536+147_1536+149del
ENST00000498520.1:n.503_505del
NM_001199981.1:c.1776+147_1776+149del	NP_001186910.1:n.1776+147_1776+149del
NM_001199982.1:c.1551+147_1551+149del	NP_001186911.1:n.1551+147_1551+149del
NM_001199983.1:c.1713+147_1713+149del	NP_001186912.1:n.1713+147_1713+149del
NM_001199984.1:c.1926+147_1926+149del	NP_001186913.1:n.1926+147_1926+149del
NM_005006.6:c.1884+147_1884+149del	NP_004997.4:n.1884+147_1884+149del
XM_017004188.2:c.1125+147_1125+149del	XP_016859677.1:n.1125+147_1125+149del
NM_001199981.2:c.1776+147_1776+149del	NP_001186910.1:n.1776+147_1776+149del
NM_001199982.2:c.1551+147_1551+149del	NP_001186911.1:n.1551+147_1551+149del
NM_001199983.2:c.1713+147_1713+149del	NP_001186912.1:n.1713+147_1713+149del
NM_005006.7:c.1884+147_1884+149del MANE Select	NP_004997.4:n.1884+147_1884+149del
NM_001199984.2:c.1926+147_1926+149del	NP_001186913.1:n.1926+147_1926+149del