Canonical Allele Identifier: CA2662800412

Gene: NDUFS1

Linked Data

• gnomAD v4: 2-206127619-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127623_206127624del , CM000664.2:g.206127623_206127624del	GRCh38
NC_000002.11:g.206992347_206992348del , CM000664.1:g.206992347_206992348del	GRCh37
NC_000002.10:g.206700592_206700593del	NCBI36
NG_009248.1:g.36843_36844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1884+176_1884+177del MANE Select	ENSP00000233190.5:n.1884+176_1884+177del
ENST00000233190.10:c.1884+176_1884+177del	ENSP00000233190.5:n.1884+176_1884+177del
ENST00000423725.5:c.1713+176_1713+177del	ENSP00000397760.1:n.1713+176_1713+177del
ENST00000432169.5:c.1551+176_1551+177del	ENSP00000409689.1:n.1551+176_1551+177del
ENST00000440274.5:c.1776+176_1776+177del	ENSP00000409766.1:n.1776+176_1776+177del
ENST00000449699.5:c.1884+176_1884+177del	ENSP00000399912.1:n.1884+176_1884+177del
ENST00000455934.6:c.1926+176_1926+177del	ENSP00000392709.2:n.1926+176_1926+177del
ENST00000457011.5:c.1536+176_1536+177del	ENSP00000400976.1:n.1536+176_1536+177del
ENST00000498520.1:n.532_533del
NM_001199981.1:c.1776+176_1776+177del	NP_001186910.1:n.1776+176_1776+177del
NM_001199982.1:c.1551+176_1551+177del	NP_001186911.1:n.1551+176_1551+177del
NM_001199983.1:c.1713+176_1713+177del	NP_001186912.1:n.1713+176_1713+177del
NM_001199984.1:c.1926+176_1926+177del	NP_001186913.1:n.1926+176_1926+177del
NM_005006.6:c.1884+176_1884+177del	NP_004997.4:n.1884+176_1884+177del
XM_017004188.2:c.1125+176_1125+177del	XP_016859677.1:n.1125+176_1125+177del
NM_001199981.2:c.1776+176_1776+177del	NP_001186910.1:n.1776+176_1776+177del
NM_001199982.2:c.1551+176_1551+177del	NP_001186911.1:n.1551+176_1551+177del
NM_001199983.2:c.1713+176_1713+177del	NP_001186912.1:n.1713+176_1713+177del
NM_005006.7:c.1884+176_1884+177del MANE Select	NP_004997.4:n.1884+176_1884+177del
NM_001199984.2:c.1926+176_1926+177del	NP_001186913.1:n.1926+176_1926+177del