Canonical Allele Identifier: CA200832550

Gene: SURF1

Linked Data

• dbSNP Id: rs2130010232
• gnomAD v4: 9-133352783-GC-G
• MyVariant Identifiers: chr9:g.133352784del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352784del , CM000671.2:g.133352784del	GRCh38
NC_000009.10:g.135209460del	NCBI36
NG_008477.1:g.8723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.516-18del MANE Select	ENSP00000361042.3:n.516-18del
ENST00000371974.7:c.516-18del	ENSP00000361042.3:n.516-18del
ENST00000437995.1:n.462-54del
ENST00000495952.5:n.506-18del
ENST00000615505.4:c.189-18del	ENSP00000482067.1:n.189-18del
NM_001280787.1:c.189-18del	NP_001267716.1:n.189-18del
NM_003172.3:c.516-18del	NP_003163.1:n.516-18del
XM_011518942.1:c.189-18del	XP_011517244.1:n.189-18del
NM_003172.4:c.516-18del MANE Select	NP_003163.1:n.516-18del