Canonical Allele Identifier: CA2692340443
Gene: SURF1 HGNC NCBI

Linked Data

gnomAD v4: 9-133353785-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353789dup , CM000671.2:g.133353789dup GRCh38
NC_000009.10:g.135210465dup NCBI36
NG_008477.1:g.7721dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.478dup MANE Select ENSP00000361042.3:p.Ala160GlyfsTer20
ENST00000371974.7:c.478dup ENSP00000361042.3:p.Ala160GlyfsTer20
ENST00000437995.1:n.424dup
ENST00000495952.5:n.468dup
ENST00000615505.4:c.151dup ENSP00000482067.1:p.Ala51GlyfsTer20
NM_001280787.1:c.151dup NP_001267716.1:p.Ala51GlyfsTer20
NM_003172.3:c.478dup NP_003163.1:p.Ala160GlyfsTer20
XM_011518942.1:c.151dup XP_011517244.1:p.Ala51GlyfsTer20
NM_003172.4:c.478dup MANE Select NP_003163.1:p.Ala160GlyfsTer20
Search 100 bp 5'
Search 100 bp 3'