Canonical Allele Identifier: CA6722611
Community Standard Title: NM_018838.5(NDUFA12):c.156_158del (p.Asn52del)
Gene: NDUFA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.95002754_95002756del , CM000674.2:g.95002754_95002756del GRCh38
NC_000012.11:g.95396530_95396532del , CM000674.1:g.95396530_95396532del GRCh37
NC_000012.10:g.93920661_93920663del NCBI36
NG_032672.1:g.5962_5964del

Transcript Alleles

HGVS Amino-acid Change
NM_018838.5:c.156_158del MANE Select NP_061326.1:p.Asn52del
ENST00000327772.7:c.156_158del MANE Select ENSP00000330737.2:p.Asn52del
NM_001258338.1:c.156_158del NP_001245267.1:p.Asn52del
NM_001258338.2:c.156_158del NP_001245267.1:p.Asn52del
NM_018838.4:c.156_158del NP_061326.1:p.Asn52del
ENST00000327772.6:c.156_158del ENSP00000330737.2:p.Asn52del
ENST00000546788.1:c.156_158del ENSP00000448545.1:p.Asn52del
ENST00000547157.1:c.102+54_102+56del ENSP00000448846.1:n.102+54_102+56del
ENST00000547986.5:c.156_158del ENSP00000450130.1:p.Asn52del
ENST00000551991.5:c.84_86del ENSP00000450096.1:p.Asn28del
ENST00000552205.5:c.136_138del
ENST00000552205.6:c.156_158del ENSP00000449144.2:p.Asn52del
ENST00000682903.1:c.156_158del ENSP00000507486.1:p.Asn52del
ENST00000684171.1:c.156_158del ENSP00000506808.1:p.Asn52del
ENST00000684558.1:c.156_158del ENSP00000507784.1:p.Asn52del