Canonical Allele Identifier: CA645372876
Community Standard Title: NM_003172.4(SURF1):c.534_535del (p.Asn178LysfsTer12)
Gene: SURF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352748_133352749del , CM000671.2:g.133352748_133352749del GRCh38
NC_000009.10:g.135209424_135209425del NCBI36
NG_008477.1:g.8759_8760del

Transcript Alleles

HGVS Amino-acid Change
NM_003172.4:c.534_535del MANE Select NP_003163.1:p.Asn178LysfsTer12
ENST00000371974.8:c.534_535del MANE Select ENSP00000361042.3:p.Asn178LysfsTer12
NM_001280787.1:c.207_208del NP_001267716.1:p.Asn69LysfsTer12
NM_003172.3:c.534_535del NP_003163.1:p.Asn178LysfsTer12
ENST00000371974.7:c.534_535del ENSP00000361042.3:p.Asn178LysfsTer12
ENST00000437995.1:n.462-18_462-17del
ENST00000495952.5:n.524_525del
ENST00000615505.4:c.207_208del ENSP00000482067.1:p.Asn69LysfsTer12
XM_011518942.1:c.207_208del XP_011517244.1:p.Asn69LysfsTer12