Canonical Allele Identifier: CA539388279

Gene: NDUFS1

Linked Data

• dbSNP Id: rs1179324500
• gnomAD v2: 2-206992523-CAG-C
• gnomAD v4: 2-206127799-CAG-C
• MyVariant Identifiers: chr2:g.206992524_206992525del (hg19) ; chr2:g.206127800_206127801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127804_206127805del , CM000664.2:g.206127804_206127805del	GRCh38
NC_000002.11:g.206992528_206992529del , CM000664.1:g.206992528_206992529del	GRCh37
NC_000002.10:g.206700773_206700774del	NCBI36
NG_009248.1:g.36663_36664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1880_1881del MANE Select	ENSP00000233190.5:p.Ser627Ter
ENST00000233190.10:c.1880_1881del	ENSP00000233190.5:p.Ser627Ter
ENST00000423725.5:c.1709_1710del	ENSP00000397760.1:p.Ser570Ter
ENST00000432169.5:c.1547_1548del	ENSP00000409689.1:p.Ser516Ter
ENST00000440274.5:c.1772_1773del	ENSP00000409766.1:p.Ser591Ter
ENST00000449699.5:c.1880_1881del	ENSP00000399912.1:p.Ser627Ter
ENST00000455934.6:c.1922_1923del	ENSP00000392709.2:p.Ser641Ter
ENST00000457011.5:c.1532_1533del	ENSP00000400976.1:p.Ser511Ter
ENST00000498520.1:n.352_353del
NM_001199981.1:c.1772_1773del	NP_001186910.1:p.Ser591Ter
NM_001199982.1:c.1547_1548del	NP_001186911.1:p.Ser516Ter
NM_001199983.1:c.1709_1710del	NP_001186912.1:p.Ser570Ter
NM_001199984.1:c.1922_1923del	NP_001186913.1:p.Ser641Ter
NM_005006.6:c.1880_1881del	NP_004997.4:p.Ser627Ter
XM_017004188.2:c.1121_1122del	XP_016859677.1:p.Ser374Ter
NM_001199981.2:c.1772_1773del	NP_001186910.1:p.Ser591Ter
NM_001199982.2:c.1547_1548del	NP_001186911.1:p.Ser516Ter
NM_001199983.2:c.1709_1710del	NP_001186912.1:p.Ser570Ter
NM_005006.7:c.1880_1881del MANE Select	NP_004997.4:p.Ser627Ter
NM_001199984.2:c.1922_1923del	NP_001186913.1:p.Ser641Ter