Canonical Allele Identifier: CA600238543

Gene: NDUFS8

Linked Data

• dbSNP Id: rs1223091294
• gnomAD v2: 11-67803974-TACA-T
• gnomAD v4: 11-68036507-TACA-T
• MyVariant Identifiers: chr11:g.67803975_67803977del (hg19) ; chr11:g.68036508_68036510del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036512_68036514del , CM000673.2:g.68036512_68036514del	GRCh38
NC_000011.9:g.67803979_67803981del , CM000673.1:g.67803979_67803981del	GRCh37
NC_000011.8:g.67560555_67560557del	NCBI36
NG_007878.1:g.2497_2499del , LRG_115:g.2497_2499del
NG_017040.1:g.10896_10898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.552_554del MANE Select	ENSP00000315774.5:p.Asn184del
ENST00000313468.9:c.552_554del	ENSP00000315774.5:p.Asn184del
ENST00000524810.5:c.484_486del
ENST00000526339.5:c.552_554del	ENSP00000436287.1:p.Asn184del
ENST00000526446.5:c.*607_*609del	ENSP00000433645.1:n.*607_*609del
ENST00000528492.1:c.114_116del	ENSP00000432848.1:p.Asn38del
ENST00000531282.1:n.404_406del
NM_002496.3:c.552_554del	NP_002487.1:p.Asn184del
XM_005274013.1:c.552_554del	XP_005274070.1:p.Asn184del
XM_005274014.1:c.552_554del	XP_005274071.1:p.Asn184del
XM_005274015.1:c.432_434del	XP_005274072.1:p.Asn144del
XM_011545053.1:c.552_554del	XP_011543355.1:p.Asn184del
NM_002496.4:c.552_554del MANE Select	NP_002487.1:p.Asn184del