Canonical Allele Identifier: CA2692338629

Gene: SURF1

Linked Data

• gnomAD v4: 9-133352346-GAGAACATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352349_133352356del , CM000671.2:g.133352349_133352356del	GRCh38
NC_000009.10:g.135209025_135209032del	NCBI36
NG_008477.1:g.9153_9160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.751+92_751+99del MANE Select	ENSP00000361042.3:n.751+92_751+99del
ENST00000371974.7:c.751+92_751+99del	ENSP00000361042.3:n.751+92_751+99del
ENST00000437995.1:n.661+92_661+99del
ENST00000495952.5:n.741+92_741+99del
ENST00000615505.4:c.424+92_424+99del	ENSP00000482067.1:n.424+92_424+99del
NM_001280787.1:c.424+92_424+99del	NP_001267716.1:n.424+92_424+99del
NM_003172.3:c.751+92_751+99del	NP_003163.1:n.751+92_751+99del
XM_011518942.1:c.424+92_424+99del	XP_011517244.1:n.424+92_424+99del
NM_003172.4:c.751+92_751+99del MANE Select	NP_003163.1:n.751+92_751+99del