Canonical Allele Identifier: CA1586828936

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140647562_140647565delinsGACT , CM000667.2:g.140647562_140647565delinsGACT GRCh38
NC_000005.9:g.140027147_140027150delinsGACT , CM000667.1:g.140027147_140027150delinsGACT GRCh37
NC_000005.8:g.140007331_140007334delinsGACT NCBI36
NG_021417.1:g.5221_5224delinsAGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252102.9:c.19_22delinsAGTC (NDUFA2) MANE Select ENSP00000252102.5:p.Ser7=
ENST00000252102.8:c.19_22delinsAGTC (NDUFA2) ENSP00000252102.4:p.Ser7=
ENST00000502960.1:n.207_210delinsAGTC (NDUFA2)
ENST00000512088.1:c.19_22delinsAGTC (NDUFA2) ENSP00000427220.1:p.Ser7=
ENST00000513256.5:c.4+253_4+256delinsGACT (IK) ENSP00000425564.1:n.4+253_4+256delinsGACT
NM_001185012.1:c.19_22delinsAGTC (NDUFA2) NP_001171941.1:p.Ser7=
NM_002488.4:c.19_22delinsAGTC (NDUFA2) NP_002479.1:p.Ser7=
NR_033697.1:n.221_224delinsAGTC (NDUFA2)
NM_002488.5:c.19_22delinsAGTC (NDUFA2) MANE Select NP_002479.1:p.Ser7=
NM_001185012.2:c.19_22delinsAGTC (NDUFA2) NP_001171941.1:p.Ser7=
NR_033697.2:n.66_69delinsAGTC (NDUFA2)