Canonical Allele Identifier: CA1882634612
Gene: SURF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352815_133352825delinsGACAGTCACTC , CM000671.2:g.133352815_133352825delinsGACAGTCACTC GRCh38
NC_000009.10:g.135209491_135209501delinsGACAGTCACTC NCBI36
NG_008477.1:g.8682_8692delinsGAGTGACTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.516-59_516-49delinsGAGTGACTGTC MANE Select ENSP00000361042.3:n.516-59_516-49delinsGAGTGACTGTC
ENST00000371974.7:c.516-59_516-49delinsGAGTGACTGTC ENSP00000361042.3:n.516-59_516-49delinsGAGTGACTGTC
ENST00000437995.1:n.462-95_462-85delinsGAGTGACTGTC
ENST00000495952.5:n.506-59_506-49delinsGAGTGACTGTC
ENST00000615505.4:c.189-59_189-49delinsGAGTGACTGTC ENSP00000482067.1:n.189-59_189-49delinsGAGTGACTGTC
NM_001280787.1:c.189-59_189-49delinsGAGTGACTGTC NP_001267716.1:n.189-59_189-49delinsGAGTGACTGTC
NM_003172.3:c.516-59_516-49delinsGAGTGACTGTC NP_003163.1:n.516-59_516-49delinsGAGTGACTGTC
XM_011518942.1:c.189-59_189-49delinsGAGTGACTGTC XP_011517244.1:n.189-59_189-49delinsGAGTGACTGTC
NM_003172.4:c.516-59_516-49delinsGAGTGACTGTC MANE Select NP_003163.1:n.516-59_516-49delinsGAGTGACTGTC