Canonical Allele Identifier: CA2554780692

Gene: NDUFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144875_206144876insTTTTATAATAATTTTG , CM000664.2:g.206144875_206144876insTTTTATAATAATTTTG	GRCh38
NC_000002.11:g.207009599_207009600insTTTTATAATAATTTTG , CM000664.1:g.207009599_207009600insTTTTATAATAATTTTG	GRCh37
NC_000002.10:g.206717844_206717845insTTTTATAATAATTTTG	NCBI36
NG_009248.1:g.19588_19589insCAAAATTATTATAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.872+16_872+17insCAAAATTATTATAAAA MANE Select	ENSP00000233190.5:n.872+16_872+17insCAAAATTATTATAAAA
ENST00000233190.10:c.872+16_872+17insCAAAATTATTATAAAA	ENSP00000233190.5:n.872+16_872+17insCAAAATTATTATAAAA
ENST00000423725.5:c.701+16_701+17insCAAAATTATTATAAAA	ENSP00000397760.1:n.701+16_701+17insCAAAATTATTATAAAA
ENST00000432169.5:c.539+16_539+17insCAAAATTATTATAAAA	ENSP00000409689.1:n.539+16_539+17insCAAAATTATTATAAAA
ENST00000440274.5:c.764+16_764+17insCAAAATTATTATAAAA	ENSP00000409766.1:n.764+16_764+17insCAAAATTATTATAAAA
ENST00000449699.5:c.872+16_872+17insCAAAATTATTATAAAA	ENSP00000399912.1:n.872+16_872+17insCAAAATTATTATAAAA
ENST00000455934.6:c.914+16_914+17insCAAAATTATTATAAAA	ENSP00000392709.2:n.914+16_914+17insCAAAATTATTATAAAA
ENST00000457011.5:c.524+16_524+17insCAAAATTATTATAAAA	ENSP00000400976.1:n.524+16_524+17insCAAAATTATTATAAAA
NM_001199981.1:c.764+16_764+17insCAAAATTATTATAAAA	NP_001186910.1:n.764+16_764+17insCAAAATTATTATAAAA
NM_001199982.1:c.539+16_539+17insCAAAATTATTATAAAA	NP_001186911.1:n.539+16_539+17insCAAAATTATTATAAAA
NM_001199983.1:c.701+16_701+17insCAAAATTATTATAAAA	NP_001186912.1:n.701+16_701+17insCAAAATTATTATAAAA
NM_001199984.1:c.914+16_914+17insCAAAATTATTATAAAA	NP_001186913.1:n.914+16_914+17insCAAAATTATTATAAAA
NM_005006.6:c.872+16_872+17insCAAAATTATTATAAAA	NP_004997.4:n.872+16_872+17insCAAAATTATTATAAAA
XM_017004188.2:c.113+16_113+17insCAAAATTATTATAAAA	XP_016859677.1:n.113+16_113+17insCAAAATTATTATAAAA
NM_001199981.2:c.764+16_764+17insCAAAATTATTATAAAA	NP_001186910.1:n.764+16_764+17insCAAAATTATTATAAAA
NM_001199982.2:c.539+16_539+17insCAAAATTATTATAAAA	NP_001186911.1:n.539+16_539+17insCAAAATTATTATAAAA
NM_001199983.2:c.701+16_701+17insCAAAATTATTATAAAA	NP_001186912.1:n.701+16_701+17insCAAAATTATTATAAAA
NM_005006.7:c.872+16_872+17insCAAAATTATTATAAAA MANE Select	NP_004997.4:n.872+16_872+17insCAAAATTATTATAAAA
NM_001199984.2:c.914+16_914+17insCAAAATTATTATAAAA	NP_001186913.1:n.914+16_914+17insCAAAATTATTATAAAA