Canonical Allele Identifier: CA2614692476

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68036416-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68036420_68036422del , CM000673.2:g.68036420_68036422del	GRCh38
NC_000011.9:g.67803887_67803889del , CM000673.1:g.67803887_67803889del	GRCh37
NC_000011.8:g.67560463_67560465del	NCBI36
NG_007878.1:g.2405_2407del , LRG_115:g.2405_2407del
NG_017040.1:g.10804_10806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.501+39_502-40del MANE Select	ENSP00000315774.5:n.501+39_502-40del
ENST00000313468.9:c.501+39_502-40del	ENSP00000315774.5:n.501+39_502-40del
ENST00000524810.5:c.433+39_434-40del
ENST00000526339.5:c.501+39_502-40del	ENSP00000436287.1:n.501+39_502-40del
ENST00000526446.5:c.*556+39_*557-40del	ENSP00000433645.1:n.*556+39_*557-40del
ENST00000528492.1:c.63+39_64-40del	ENSP00000432848.1:n.63+39_64-40del
ENST00000531282.1:n.353+39_354-40del
NM_002496.3:c.501+39_502-40del	NP_002487.1:n.501+39_502-40del
XM_005274013.1:c.501+39_502-40del	XP_005274070.1:n.501+39_502-40del
XM_005274014.1:c.501+39_502-40del	XP_005274071.1:n.501+39_502-40del
XM_005274015.1:c.381+39_382-40del	XP_005274072.1:n.381+39_382-40del
XM_011545053.1:c.501+39_502-40del	XP_011543355.1:n.501+39_502-40del
NM_002496.4:c.501+39_502-40del MANE Select	NP_002487.1:n.501+39_502-40del