Canonical Allele Identifier: CA2651946599

Gene: NDUFAF5

Linked Data

• gnomAD v4: 20-13801548-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13801550_13801551del , CM000682.2:g.13801550_13801551del	GRCh38
NC_000020.10:g.13782196_13782197del , CM000682.1:g.13782196_13782197del	GRCh37
NC_000020.9:g.13730196_13730197del	NCBI36
NG_015811.1:g.21525_21526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378106.10:c.584_585del MANE Select	ENSP00000367346.5:p.Tyr195Ter
ENST00000378081.9:c.584_585del	ENSP00000437325.1:p.Tyr195Ter
ENST00000378106.9:c.584_585del	ENSP00000367346.5:p.Tyr195Ter
ENST00000463598.1:c.500_501del	ENSP00000420497.1:p.Tyr167Ter
ENST00000464269.5:n.257_258del
ENST00000475968.5:n.461_462del
ENST00000476536.5:n.544_545del
ENST00000477732.5:n.502+3050_502+3051del
ENST00000479716.5:n.105_106del
ENST00000481249.5:n.461_462del
ENST00000485738.5:n.561_562del
ENST00000487478.5:n.8_9del
NM_001039375.2:c.500_501del	NP_001034464.1:p.Tyr167Ter
NM_024120.4:c.584_585del	NP_077025.2:p.Tyr195Ter
NR_029377.1:n.627_628del
XM_006723620.2:c.584_585del	XP_006723683.1:p.Tyr195Ter
XM_006723622.2:c.113_114del	XP_006723685.1:p.Tyr38Ter
XM_006723623.1:c.113_114del	XP_006723686.1:p.Tyr38Ter
XM_006723624.1:c.113_114del	XP_006723687.1:p.Tyr38Ter
XM_011529341.1:c.584_585del	XP_011527643.1:p.Tyr195Ter
XM_011529342.1:c.584_585del	XP_011527644.1:p.Tyr195Ter
XM_011529343.1:c.584_585del	XP_011527645.1:p.Tyr195Ter
XM_011529344.1:c.215_216del	XP_011527646.1:p.Tyr72Ter
XR_430269.2:n.604_605del
XR_937140.1:n.604_605del
NM_001352403.1:c.113_114del	NP_001339332.1:p.Tyr38Ter
NM_001352406.1:c.23_24del	NP_001339335.1:p.Tyr8Ter
NM_001352407.1:c.23_24del	NP_001339336.1:p.Tyr8Ter
NM_001352408.1:c.584_585del	NP_001339337.1:p.Tyr195Ter
NR_147978.1:n.627_628del
NR_147979.1:n.647_648del
NR_147980.1:n.523_524del
NR_147981.1:n.761_762del
NR_147982.1:n.761_762del
NR_147983.1:n.677_678del
XM_006723624.2:c.113_114del	XP_006723687.1:p.Tyr38Ter
XM_011529342.2:c.584_585del	XP_011527644.1:p.Tyr195Ter
XM_024451999.1:c.113_114del	XP_024307767.1:p.Tyr38Ter
XR_001754396.1:n.543_544del
XR_430269.3:n.604_605del
XR_937140.2:n.604_605del
NM_024120.5:c.584_585del MANE Select	NP_077025.2:p.Tyr195Ter
NM_001039375.3:c.500_501del	NP_001034464.1:p.Tyr167Ter
NM_001352403.2:c.113_114del	NP_001339332.1:p.Tyr38Ter
NM_001352406.2:c.23_24del	NP_001339335.1:p.Tyr8Ter
NM_001352407.2:c.23_24del	NP_001339336.1:p.Tyr8Ter
NR_029377.2:n.625_626del
NR_147978.2:n.625_626del
NR_147979.2:n.645_646del
NR_147980.2:n.521_522del
NR_147981.2:n.759_760del
NR_147982.2:n.759_760del
NR_147983.2:n.675_676del
NM_001352408.2:c.584_585del	NP_001339337.1:p.Tyr195Ter