Canonical Allele Identifier: CA2523756622
Gene: SURF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352953_133352957del , CM000671.2:g.133352953_133352957del GRCh38
NC_000009.10:g.135209629_135209633del NCBI36
NG_008477.1:g.8550_8554del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.516-191_516-187del MANE Select ENSP00000361042.3:n.516-191_516-187del
ENST00000371974.7:c.516-191_516-187del ENSP00000361042.3:n.516-191_516-187del
ENST00000437995.1:n.462-227_462-223del
ENST00000495952.5:n.506-191_506-187del
ENST00000615505.4:c.189-191_189-187del ENSP00000482067.1:n.189-191_189-187del
NM_001280787.1:c.189-191_189-187del NP_001267716.1:n.189-191_189-187del
NM_003172.3:c.516-191_516-187del NP_003163.1:n.516-191_516-187del
XM_011518942.1:c.189-191_189-187del XP_011517244.1:n.189-191_189-187del
NM_003172.4:c.516-191_516-187del MANE Select NP_003163.1:n.516-191_516-187del