Canonical Allele Identifier: CA200832988
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs2130014586
gnomAD v4: 9-133353798-TTGAGGAGGAGA-T
MyVariant Identifiers: chr9:g.133353799_133353809del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353804_133353814del , CM000671.2:g.133353804_133353814del GRCh38
NC_000009.10:g.135210480_135210490del NCBI36
NG_008477.1:g.7698_7708del

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.455_465del MANE Select ENSP00000361042.3:p.Ile152AsnfsTer24
ENST00000371974.7:c.455_465del ENSP00000361042.3:p.Ile152AsnfsTer24
ENST00000437995.1:n.401_411del
ENST00000495952.5:n.445_455del
ENST00000615505.4:c.128_138del ENSP00000482067.1:p.Ile43AsnfsTer24
NM_001280787.1:c.128_138del NP_001267716.1:p.Ile43AsnfsTer24
NM_003172.3:c.455_465del NP_003163.1:p.Ile152AsnfsTer24
XM_011518942.1:c.128_138del XP_011517244.1:p.Ile43AsnfsTer24
NM_003172.4:c.455_465del MANE Select NP_003163.1:p.Ile152AsnfsTer24
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