Canonical Allele Identifier: CA200832569

Gene: SURF1

Linked Data

• dbSNP Id: rs2130010485
• gnomAD v4: 9-133352811-TA-T
• MyVariant Identifiers: chr9:g.133352812del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352814del , CM000671.2:g.133352814del	GRCh38
NC_000009.10:g.135209490del	NCBI36
NG_008477.1:g.8695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.516-46del MANE Select	ENSP00000361042.3:n.516-46del
ENST00000371974.7:c.516-46del	ENSP00000361042.3:n.516-46del
ENST00000437995.1:n.462-82del
ENST00000495952.5:n.506-46del
ENST00000615505.4:c.189-46del	ENSP00000482067.1:n.189-46del
NM_001280787.1:c.189-46del	NP_001267716.1:n.189-46del
NM_003172.3:c.516-46del	NP_003163.1:n.516-46del
XM_011518942.1:c.189-46del	XP_011517244.1:n.189-46del
NM_003172.4:c.516-46del MANE Select	NP_003163.1:n.516-46del