Canonical Allele Identifier: CA2692339765

Gene: SURF1

Linked Data

• gnomAD v4: 9-133352786-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352788_133352790del , CM000671.2:g.133352788_133352790del	GRCh38
NC_000009.10:g.135209464_135209466del	NCBI36
NG_008477.1:g.8718_8720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.516-23_516-21del MANE Select	ENSP00000361042.3:n.516-23_516-21del
ENST00000371974.7:c.516-23_516-21del	ENSP00000361042.3:n.516-23_516-21del
ENST00000437995.1:n.462-59_462-57del
ENST00000495952.5:n.506-23_506-21del
ENST00000615505.4:c.189-23_189-21del	ENSP00000482067.1:n.189-23_189-21del
NM_001280787.1:c.189-23_189-21del	NP_001267716.1:n.189-23_189-21del
NM_003172.3:c.516-23_516-21del	NP_003163.1:n.516-23_516-21del
XM_011518942.1:c.189-23_189-21del	XP_011517244.1:n.189-23_189-21del
NM_003172.4:c.516-23_516-21del MANE Select	NP_003163.1:n.516-23_516-21del