Canonical Allele Identifier: CA2496487491
Gene: NDUFS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206145187_206145188delinsCT , CM000664.2:g.206145187_206145188delinsCT GRCh38
NC_000002.11:g.207009911_207009912delinsCT , CM000664.1:g.207009911_207009912delinsCT GRCh37
NC_000002.10:g.206718156_206718157delinsCT NCBI36
NG_009248.1:g.19276_19277delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000233190.11:c.738-162_738-161delinsAG MANE Select ENSP00000233190.5:n.738-162_738-161delinsAG
ENST00000233190.10:c.738-162_738-161delinsAG ENSP00000233190.5:n.738-162_738-161delinsAG
ENST00000423725.5:c.567-162_567-161delinsAG ENSP00000397760.1:n.567-162_567-161delinsAG
ENST00000432169.5:c.405-162_405-161delinsAG ENSP00000409689.1:n.405-162_405-161delinsAG
ENST00000440274.5:c.630-162_630-161delinsAG ENSP00000409766.1:n.630-162_630-161delinsAG
ENST00000449699.5:c.738-162_738-161delinsAG ENSP00000399912.1:n.738-162_738-161delinsAG
ENST00000455934.6:c.780-162_780-161delinsAG ENSP00000392709.2:n.780-162_780-161delinsAG
ENST00000457011.5:c.390-162_390-161delinsAG ENSP00000400976.1:n.390-162_390-161delinsAG
NM_001199981.1:c.630-162_630-161delinsAG NP_001186910.1:n.630-162_630-161delinsAG
NM_001199982.1:c.405-162_405-161delinsAG NP_001186911.1:n.405-162_405-161delinsAG
NM_001199983.1:c.567-162_567-161delinsAG NP_001186912.1:n.567-162_567-161delinsAG
NM_001199984.1:c.780-162_780-161delinsAG NP_001186913.1:n.780-162_780-161delinsAG
NM_005006.6:c.738-162_738-161delinsAG NP_004997.4:n.738-162_738-161delinsAG
XM_017004188.2:c.-53-131_-53-130delinsAG XP_016859677.1:n.-53-131_-53-130delinsAG
NM_001199981.2:c.630-162_630-161delinsAG NP_001186910.1:n.630-162_630-161delinsAG
NM_001199982.2:c.405-162_405-161delinsAG NP_001186911.1:n.405-162_405-161delinsAG
NM_001199983.2:c.567-162_567-161delinsAG NP_001186912.1:n.567-162_567-161delinsAG
NM_005006.7:c.738-162_738-161delinsAG MANE Select NP_004997.4:n.738-162_738-161delinsAG
NM_001199984.2:c.780-162_780-161delinsAG NP_001186913.1:n.780-162_780-161delinsAG